SNP Links for Protein (Select 1034556295) - SNP

Links from Protein

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Select item 14901585981.

rs1490158598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:32181576 (GRCh38)
1:32647177 (GRCh37)
Canonical SPDI:: NC_000001.11:32181575:G:C
Gene:: TXLNA (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000034/1 (ALFA)
C=0.000007/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.32181576G>C, NC_000001.10:g.32647177G>C, NM_175852.4:c.504G>C, NM_175852.3:c.504G>C, XM_011540932.3:c.116G>C, XM_011540932.2:c.116G>C, XM_011540932.1:c.116G>C, XM_017000561.2:c.504G>C, XM_017000561.1:c.504G>C, XM_017000563.2:c.504G>C, XM_017000563.1:c.504G>C, NM_001376857.1:c.504G>C, NM_001376858.1:c.-121G>C, NM_001376859.1:c.-22G>C, NP_787048.1:p.Leu168Phe, XP_011539234.1:p.Trp39Ser, XP_016856050.1:p.Leu168Phe, XP_016856052.1:p.Leu168Phe, NP_001363786.1:p.Leu168Phe

Select item 14885576152.

rs1488557615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32190242 (GRCh38)
1:32655843 (GRCh37)
Canonical SPDI:: NC_000001.11:32190241:G:A
Gene:: TXLNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.32190242G>A, NC_000001.10:g.32655843G>A, NM_175852.4:c.956G>A, NM_175852.3:c.956G>A, XM_011540932.3:c.476G>A, XM_011540932.2:c.476G>A, XM_011540932.1:c.476G>A, XM_017000561.2:c.1055G>A, XM_017000561.1:c.1055G>A, XM_017000563.2:c.1055G>A, XM_017000563.1:c.1055G>A, NM_001376857.1:c.956G>A, NM_001376858.1:c.431G>A, NM_001376859.1:c.431G>A, NP_787048.1:p.Arg319His, XP_011539234.1:p.Arg159His, XP_016856050.1:p.Arg352His, XP_016856052.1:p.Arg352His, NP_001363786.1:p.Arg319His, NP_001363787.1:p.Arg144His, NP_001363788.1:p.Arg144His

Select item 14856061843.

rs1485606184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32195176 (GRCh38)
1:32660777 (GRCh37)
Canonical SPDI:: NC_000001.11:32195175:C:T
Gene:: CCDC28B (Varview), TXLNA (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.32195176C>T, NC_000001.10:g.32660777C>T, NM_175852.4:c.1622C>T, NM_175852.3:c.1622C>T, XM_011540932.3:c.1142C>T, XM_011540932.2:c.1142C>T, XM_011540932.1:c.1142C>T, XM_017000561.2:c.1721C>T, XM_017000561.1:c.1721C>T, XM_017000563.2:c.1721C>T, XM_017000563.1:c.1721C>T, NM_001376857.1:c.1622C>T, NM_001376858.1:c.1097C>T, NM_001376859.1:c.1097C>T, NP_787048.1:p.Pro541Leu, XP_011539234.1:p.Pro381Leu, XP_016856050.1:p.Pro574Leu, XP_016856052.1:p.Pro574Leu, NP_001363786.1:p.Pro541Leu, NP_001363787.1:p.Pro366Leu, NP_001363788.1:p.Pro366Leu

Select item 14851892874.

rs1485189287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32187967 (GRCh38)
1:32653568 (GRCh37)
Canonical SPDI:: NC_000001.11:32187966:G:A
Gene:: TXLNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.32187967G>A, NC_000001.10:g.32653568G>A, NM_175852.4:c.611G>A, NM_175852.3:c.611G>A, XM_011540932.3:c.131G>A, XM_011540932.2:c.131G>A, XM_011540932.1:c.131G>A, XM_017000561.2:c.710G>A, XM_017000561.1:c.710G>A, XM_017000563.2:c.710G>A, XM_017000563.1:c.710G>A, NM_001376857.1:c.611G>A, NM_001376858.1:c.86G>A, NM_001376859.1:c.86G>A, NP_787048.1:p.Arg204Gln, XP_011539234.1:p.Arg44Gln, XP_016856050.1:p.Arg237Gln, XP_016856052.1:p.Arg237Gln, NP_001363786.1:p.Arg204Gln, NP_001363787.1:p.Arg29Gln, NP_001363788.1:p.Arg29Gln

Select item 14850971665.

rs1485097166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32181413 (GRCh38)
1:32647014 (GRCh37)
Canonical SPDI:: NC_000001.11:32181412:G:A
Gene:: TXLNA (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.32181413G>A, NC_000001.10:g.32647014G>A, NM_175852.4:c.341G>A, NM_175852.3:c.341G>A, XM_011540932.3:c.-48G>A, XM_011540932.2:c.-48G>A, XM_011540932.1:c.-48G>A, XM_017000561.2:c.341G>A, XM_017000561.1:c.341G>A, XM_017000563.2:c.341G>A, XM_017000563.1:c.341G>A, NM_001376857.1:c.341G>A, NM_001376858.1:c.-284G>A, NM_001376859.1:c.-185G>A, NP_787048.1:p.Arg114Gln, XP_016856050.1:p.Arg114Gln, XP_016856052.1:p.Arg114Gln, NP_001363786.1:p.Arg114Gln

Select item 14803607226.

rs1480360722 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:32181329 (GRCh38)
1:32646930 (GRCh37)
Canonical SPDI:: NC_000001.11:32181328:A:T
Gene:: TXLNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.32181329A>T, NC_000001.10:g.32646930A>T, NM_175852.4:c.257A>T, NM_175852.3:c.257A>T, XM_011540932.3:c.-132A>T, XM_011540932.2:c.-132A>T, XM_011540932.1:c.-132A>T, XM_017000561.2:c.257A>T, XM_017000561.1:c.257A>T, XM_017000563.2:c.257A>T, XM_017000563.1:c.257A>T, NM_001376857.1:c.257A>T, NM_001376858.1:c.-368A>T, NM_001376859.1:c.-269A>T, NP_787048.1:p.Tyr86Phe, XP_016856050.1:p.Tyr86Phe, XP_016856052.1:p.Tyr86Phe, NP_001363786.1:p.Tyr86Phe

Select item 14798609287.

rs1479860928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32181509 (GRCh38)
1:32647110 (GRCh37)
Canonical SPDI:: NC_000001.11:32181508:G:A
Gene:: TXLNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000001.11:g.32181509G>A, NC_000001.10:g.32647110G>A, NM_175852.4:c.437G>A, NM_175852.3:c.437G>A, XM_011540932.3:c.49G>A, XM_011540932.2:c.49G>A, XM_011540932.1:c.49G>A, XM_017000561.2:c.437G>A, XM_017000561.1:c.437G>A, XM_017000563.2:c.437G>A, XM_017000563.1:c.437G>A, NM_001376857.1:c.437G>A, NM_001376858.1:c.-188G>A, NM_001376859.1:c.-89G>A, NP_787048.1:p.Arg146Gln, XP_011539234.1:p.Gly17Ser, XP_016856050.1:p.Arg146Gln, XP_016856052.1:p.Arg146Gln, NP_001363786.1:p.Arg146Gln

Select item 14788838388.

rs1478883838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:32187989 (GRCh38)
1:32653590 (GRCh37)
Canonical SPDI:: NC_000001.11:32187988:G:C
Gene:: TXLNA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32187989G>C, NC_000001.10:g.32653590G>C, NM_175852.4:c.633G>C, NM_175852.3:c.633G>C, XM_011540932.3:c.153G>C, XM_011540932.2:c.153G>C, XM_011540932.1:c.153G>C, XM_017000561.2:c.732G>C, XM_017000561.1:c.732G>C, XM_017000563.2:c.732G>C, XM_017000563.1:c.732G>C, NM_001376857.1:c.633G>C, NM_001376858.1:c.108G>C, NM_001376859.1:c.108G>C, NP_787048.1:p.Lys211Asn, XP_011539234.1:p.Lys51Asn, XP_016856050.1:p.Lys244Asn, XP_016856052.1:p.Lys244Asn, NP_001363786.1:p.Lys211Asn, NP_001363787.1:p.Lys36Asn, NP_001363788.1:p.Lys36Asn

Select item 14764054269.

rs1476405426 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:32181597 (GRCh38)
1:32647198 (GRCh37)
Canonical SPDI:: NC_000001.11:32181595:TTT:T
Gene:: TXLNA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.32181597_32181598del, NC_000001.10:g.32647198_32647199del, XM_017000561.2:c.525_526del, XM_017000561.1:c.525_526del, XM_017000563.2:c.525_526del, XM_017000563.1:c.525_526del, NM_001376858.1:c.-100_-99del, XP_016856050.1:p.Leu175_Cys176insTer, XP_016856052.1:p.Leu175_Cys176insTer

Select item 147593576910.

rs1475935769 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:32194104 (GRCh38)
1:32659705 (GRCh37)
Canonical SPDI:: NC_000001.11:32194103:A:G
Gene:: CCDC28B (Varview), TXLNA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32194104A>G, NC_000001.10:g.32659705A>G, NM_175852.4:c.1291A>G, NM_175852.3:c.1291A>G, XM_011540932.3:c.811A>G, XM_011540932.2:c.811A>G, XM_011540932.1:c.811A>G, XM_017000561.2:c.1390A>G, XM_017000561.1:c.1390A>G, XM_017000563.2:c.1390A>G, XM_017000563.1:c.1390A>G, NM_001376857.1:c.1291A>G, NM_001376858.1:c.766A>G, NM_001376859.1:c.766A>G, NP_787048.1:p.Met431Val, XP_011539234.1:p.Met271Val, XP_016856050.1:p.Met464Val, XP_016856052.1:p.Met464Val, NP_001363786.1:p.Met431Val, NP_001363787.1:p.Met256Val, NP_001363788.1:p.Met256Val

Select item 147568294711.

rs1475682947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:32181444 (GRCh38)
1:32647045 (GRCh37)
Canonical SPDI:: NC_000001.11:32181443:A:G
Gene:: TXLNA (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32181444A>G, NC_000001.10:g.32647045A>G, NM_175852.4:c.372A>G, NM_175852.3:c.372A>G, XM_011540932.3:c.-17A>G, XM_011540932.2:c.-17A>G, XM_011540932.1:c.-17A>G, XM_017000561.2:c.372A>G, XM_017000561.1:c.372A>G, XM_017000563.2:c.372A>G, XM_017000563.1:c.372A>G, NM_001376857.1:c.372A>G, NM_001376858.1:c.-253A>G, NM_001376859.1:c.-154A>G

Select item 147542688012.

rs1475426880 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 1:32193284 (GRCh38)
1:32658886 (GRCh37)
Canonical SPDI:: NC_000001.11:32193284::AT
Gene:: TXLNA (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: AT=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.32193284_32193285insAT, NC_000001.10:g.32658885_32658886insAT, NM_175852.4:c.1235_1236insAT, NM_175852.3:c.1235_1236insAT, XM_011540932.3:c.755_756insAT, XM_011540932.2:c.755_756insAT, XM_011540932.1:c.755_756insAT, XM_017000561.2:c.1334_1335insAT, XM_017000561.1:c.1334_1335insAT, XM_017000563.2:c.1334_1335insAT, XM_017000563.1:c.1334_1335insAT, NM_001376857.1:c.1235_1236insAT, NM_001376858.1:c.710_711insAT, NM_001376859.1:c.710_711insAT, NP_787048.1:p.Gln413fs, XP_011539234.1:p.Gln253fs, XP_016856050.1:p.Gln446fs, XP_016856052.1:p.Gln446fs, NP_001363786.1:p.Gln413fs, NP_001363787.1:p.Gln238fs, NP_001363788.1:p.Gln238fs

Select item 147375104113.

rs1473751041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32181363 (GRCh38)
1:32646964 (GRCh37)
Canonical SPDI:: NC_000001.11:32181362:G:A
Gene:: TXLNA (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32181363G>A, NC_000001.10:g.32646964G>A, NM_175852.4:c.291G>A, NM_175852.3:c.291G>A, XM_011540932.3:c.-98G>A, XM_011540932.2:c.-98G>A, XM_011540932.1:c.-98G>A, XM_017000561.2:c.291G>A, XM_017000561.1:c.291G>A, XM_017000563.2:c.291G>A, XM_017000563.1:c.291G>A, NM_001376857.1:c.291G>A, NM_001376858.1:c.-334G>A, NM_001376859.1:c.-235G>A

Select item 147201088914.

rs1472010889 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:32192387 (GRCh38)
1:32657988 (GRCh37)
Canonical SPDI:: NC_000001.11:32192386:T:A
Gene:: TXLNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32192387T>A, NC_000001.10:g.32657988T>A, NM_175852.4:c.1040T>A, NM_175852.3:c.1040T>A, XM_011540932.3:c.560T>A, XM_011540932.2:c.560T>A, XM_011540932.1:c.560T>A, XM_017000561.2:c.1139T>A, XM_017000561.1:c.1139T>A, XM_017000563.2:c.1139T>A, XM_017000563.1:c.1139T>A, NM_001376857.1:c.1040T>A, NM_001376858.1:c.515T>A, NM_001376859.1:c.515T>A, NP_787048.1:p.Met347Lys, XP_011539234.1:p.Met187Lys, XP_016856050.1:p.Met380Lys, XP_016856052.1:p.Met380Lys, NP_001363786.1:p.Met347Lys, NP_001363787.1:p.Met172Lys, NP_001363788.1:p.Met172Lys

Select item 147043784815.

rs1470437848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32180503 (GRCh38)
1:32646104 (GRCh37)
Canonical SPDI:: NC_000001.11:32180502:G:A
Gene:: TXLNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000001.11:g.32180503G>A, NC_000001.10:g.32646104G>A, NM_175852.4:c.158G>A, NM_175852.3:c.158G>A, XM_017000561.2:c.158G>A, XM_017000561.1:c.158G>A, XM_017000563.2:c.158G>A, XM_017000563.1:c.158G>A, NM_001376857.1:c.158G>A, NP_787048.1:p.Arg53Gln, XP_016856050.1:p.Arg53Gln, XP_016856052.1:p.Arg53Gln, NP_001363786.1:p.Arg53Gln

Select item 147015675716.

rs1470156757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:32195014 (GRCh38)
1:32660615 (GRCh37)
Canonical SPDI:: NC_000001.11:32195013:A:C
Gene:: CCDC28B (Varview), TXLNA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32195014A>C, NC_000001.10:g.32660615A>C, NM_175852.4:c.1460A>C, NM_175852.3:c.1460A>C, XM_011540932.3:c.980A>C, XM_011540932.2:c.980A>C, XM_011540932.1:c.980A>C, XM_017000561.2:c.1559A>C, XM_017000561.1:c.1559A>C, XM_017000563.2:c.1559A>C, XM_017000563.1:c.1559A>C, NM_001376857.1:c.1460A>C, NM_001376858.1:c.935A>C, NM_001376859.1:c.935A>C, NP_787048.1:p.Asp487Ala, XP_011539234.1:p.Asp327Ala, XP_016856050.1:p.Asp520Ala, XP_016856052.1:p.Asp520Ala, NP_001363786.1:p.Asp487Ala, NP_001363787.1:p.Asp312Ala, NP_001363788.1:p.Asp312Ala

Select item 146983504317.

rs1469835043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32181252 (GRCh38)
1:32646853 (GRCh37)
Canonical SPDI:: NC_000001.11:32181251:C:T
Gene:: TXLNA (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32181252C>T, NC_000001.10:g.32646853C>T, NM_175852.4:c.180C>T, NM_175852.3:c.180C>T, XM_011540932.3:c.-209C>T, XM_011540932.2:c.-209C>T, XM_011540932.1:c.-209C>T, XM_017000561.2:c.180C>T, XM_017000561.1:c.180C>T, XM_017000563.2:c.180C>T, XM_017000563.1:c.180C>T, NM_001376857.1:c.180C>T, NM_001376858.1:c.-445C>T, NM_001376859.1:c.-346C>T

Select item 146975523418.

rs1469755234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:32181303 (GRCh38)
1:32646904 (GRCh37)
Canonical SPDI:: NC_000001.11:32181302:C:G
Gene:: TXLNA (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.32181303C>G, NC_000001.10:g.32646904C>G, NM_175852.4:c.231C>G, NM_175852.3:c.231C>G, XM_011540932.3:c.-158C>G, XM_011540932.2:c.-158C>G, XM_011540932.1:c.-158C>G, XM_017000561.2:c.231C>G, XM_017000561.1:c.231C>G, XM_017000563.2:c.231C>G, XM_017000563.1:c.231C>G, NM_001376857.1:c.231C>G, NM_001376858.1:c.-394C>G, NM_001376859.1:c.-295C>G

Select item 146583158419.

rs1465831584 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:32190097 (GRCh38)
1:32655698 (GRCh37)
Canonical SPDI:: NC_000001.11:32190096:A:C
Gene:: TXLNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32190097A>C, NC_000001.10:g.32655698A>C, NM_175852.4:c.811A>C, NM_175852.3:c.811A>C, XM_011540932.3:c.331A>C, XM_011540932.2:c.331A>C, XM_011540932.1:c.331A>C, XM_017000561.2:c.910A>C, XM_017000561.1:c.910A>C, XM_017000563.2:c.910A>C, XM_017000563.1:c.910A>C, NM_001376857.1:c.811A>C, NM_001376858.1:c.286A>C, NM_001376859.1:c.286A>C, NP_787048.1:p.Lys271Gln, XP_011539234.1:p.Lys111Gln, XP_016856050.1:p.Lys304Gln, XP_016856052.1:p.Lys304Gln, NP_001363786.1:p.Lys271Gln, NP_001363787.1:p.Lys96Gln, NP_001363788.1:p.Lys96Gln

Select item 146364936520.

rs1463649365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:32180433 (GRCh38)
1:32646034 (GRCh37)
Canonical SPDI:: NC_000001.11:32180432:G:C
Gene:: TXLNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32180433G>C, NC_000001.10:g.32646034G>C, NM_175852.4:c.88G>C, NM_175852.3:c.88G>C, XM_017000561.2:c.88G>C, XM_017000561.1:c.88G>C, XM_017000563.2:c.88G>C, XM_017000563.1:c.88G>C, NM_001376857.1:c.88G>C, NP_787048.1:p.Ala30Pro, XP_016856050.1:p.Ala30Pro, XP_016856052.1:p.Ala30Pro, NP_001363786.1:p.Ala30Pro

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