SNP Links for Protein (Select 58530842) - SNP

Links from Protein

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Select item 14911564951.

rs1491156495 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:7585734 (GRCh38)
6:7585967 (GRCh37)
Canonical SPDI:: NC_000006.12:7585733:GT:
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
HGVS:: NC_000006.12:g.7585734_7585735del, NC_000006.11:g.7585967_7585968del, NG_008803.1:g.49098_49099del, NM_004415.4:c.8472_8473del, NM_004415.3:c.8472_8473del, NM_004415.2:c.8472_8473del, NM_001008844.3:c.6675_6676del, NM_001008844.2:c.6675_6676del, NM_001008844.1:c.6675_6676del, NM_001319034.2:c.7143_7144del, NM_001319034.1:c.7143_7144del, NP_004406.2:p.Ser2825fs, NP_001008844.1:p.Ser2226fs, NP_001305963.1:p.Ser2382fs

Select item 14908079092.

rs1490807909 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:7570454 (GRCh38)
6:7570687 (GRCh37)
Canonical SPDI:: NC_000006.12:7570453:A:T
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.7570454A>T, NC_000006.11:g.7570687A>T, NG_008803.1:g.33818A>T, NM_004415.4:c.1592A>T, NM_004415.3:c.1592A>T, NM_004415.2:c.1592A>T, NM_001008844.3:c.1592A>T, NM_001008844.2:c.1592A>T, NM_001008844.1:c.1592A>T, NM_001319034.2:c.1592A>T, NM_001319034.1:c.1592A>T, NP_004406.2:p.Glu531Val, NP_001008844.1:p.Glu531Val, NP_001305963.1:p.Glu531Val

Select item 14908075723.

rs1490807572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:7584259 (GRCh38)
6:7584492 (GRCh37)
Canonical SPDI:: NC_000006.12:7584258:G:A
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7584259G>A, NC_000006.11:g.7584492G>A, NG_008803.1:g.47623G>A, NM_004415.4:c.6997G>A, NM_004415.3:c.6997G>A, NM_004415.2:c.6997G>A, NM_001008844.3:c.5200G>A, NM_001008844.2:c.5200G>A, NM_001008844.1:c.5200G>A, NM_001319034.2:c.5668G>A, NM_001319034.1:c.5668G>A, NP_004406.2:p.Glu2333Lys, NP_001008844.1:p.Glu1734Lys, NP_001305963.1:p.Glu1890Lys

Select item 14907445434.

rs1490744543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:7565514 (GRCh38)
6:7565747 (GRCh37)
Canonical SPDI:: NC_000006.12:7565513:C:G
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.7565514C>G, NC_000006.11:g.7565747C>G, NG_008803.1:g.28878C>G, NM_004415.4:c.933C>G, NM_004415.3:c.933C>G, NM_004415.2:c.933C>G, NM_001008844.3:c.933C>G, NM_001008844.2:c.933C>G, NM_001008844.1:c.933C>G, NM_001319034.2:c.933C>G, NM_001319034.1:c.933C>G, NM_001406591.1:c.933C>G

Select item 14905385095.

rs1490538509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:7574128 (GRCh38)
6:7574361 (GRCh37)
Canonical SPDI:: NC_000006.12:7574127:C:A
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.7574128C>A, NC_000006.11:g.7574361C>A, NG_008803.1:g.37492C>A, NM_004415.4:c.2173C>A, NM_004415.3:c.2173C>A, NM_004415.2:c.2173C>A, NM_001008844.3:c.2173C>A, NM_001008844.2:c.2173C>A, NM_001008844.1:c.2173C>A, NM_001319034.2:c.2173C>A, NM_001319034.1:c.2173C>A, NP_004406.2:p.Gln725Lys, NP_001008844.1:p.Gln725Lys, NP_001305963.1:p.Gln725Lys

Select item 14904038086.

rs1490403808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:7579694 (GRCh38)
6:7579927 (GRCh37)
Canonical SPDI:: NC_000006.12:7579693:G:T
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.7579694G>T, NC_000006.11:g.7579927G>T, NG_008803.1:g.43058G>T, NM_004415.4:c.3504G>T, NM_004415.3:c.3504G>T, NM_004415.2:c.3504G>T, NM_001008844.3:c.3504G>T, NM_001008844.2:c.3504G>T, NM_001008844.1:c.3504G>T, NM_001319034.2:c.3504G>T, NM_001319034.1:c.3504G>T, NP_004406.2:p.Glu1168Asp, NP_001008844.1:p.Glu1168Asp, NP_001305963.1:p.Glu1168Asp

Select item 14902799637.

rs1490279963 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:7563773 (GRCh38)
6:7564006 (GRCh37)
Canonical SPDI:: NC_000006.12:7563772:A:T
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000142/2 (TOMMO)
HGVS:: NC_000006.12:g.7563773A>T, NC_000006.11:g.7564006A>T, NG_008803.1:g.27137A>T, NM_004415.4:c.764A>T, NM_004415.3:c.764A>T, NM_004415.2:c.764A>T, NM_001008844.3:c.764A>T, NM_001008844.2:c.764A>T, NM_001008844.1:c.764A>T, NM_001319034.2:c.764A>T, NM_001319034.1:c.764A>T, NM_001406591.1:c.764A>T, NP_004406.2:p.Tyr255Phe, NP_001008844.1:p.Tyr255Phe, NP_001305963.1:p.Tyr255Phe

Select item 14890600308.

rs1489060030 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:7577006 (GRCh38)
6:7577239 (GRCh37)
Canonical SPDI:: NC_000006.12:7577005:A:G
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.7577006A>G, NC_000006.11:g.7577239A>G, NG_008803.1:g.40370A>G, NM_004415.4:c.2841A>G, NM_004415.3:c.2841A>G, NM_004415.2:c.2841A>G, NM_001008844.3:c.2841A>G, NM_001008844.2:c.2841A>G, NM_001008844.1:c.2841A>G, NM_001319034.2:c.2841A>G, NM_001319034.1:c.2841A>G

Select item 14889480329.

rs1488948032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:7579622 (GRCh38)
6:7579855 (GRCh37)
Canonical SPDI:: NC_000006.12:7579621:A:C
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7579622A>C, NC_000006.11:g.7579855A>C, NG_008803.1:g.42986A>C, NM_004415.4:c.3432A>C, NM_004415.3:c.3432A>C, NM_004415.2:c.3432A>C, NM_001008844.3:c.3432A>C, NM_001008844.2:c.3432A>C, NM_001008844.1:c.3432A>C, NM_001319034.2:c.3432A>C, NM_001319034.1:c.3432A>C, NP_004406.2:p.Lys1144Asn, NP_001008844.1:p.Lys1144Asn, NP_001305963.1:p.Lys1144Asn

Select item 148781468710.

rs1487814687 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 6:7582933 (GRCh38)
6:7583166 (GRCh37)
Canonical SPDI:: NC_000006.12:7582926:GAGAGAGAGA:GAGAGA,NC_000006.12:7582926:GAGAGAGAGA:GAGAGAGA,NC_000006.12:7582926:GAGAGAGAGA:GAGAGAGAGAGA
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGA=0.000142/2 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.7582927GA[3], NC_000006.12:g.7582927GA[4], NC_000006.12:g.7582927GA[6], NC_000006.11:g.7583160GA[3], NC_000006.11:g.7583160GA[4], NC_000006.11:g.7583160GA[6], NG_008803.1:g.46291GA[3], NG_008803.1:g.46291GA[4], NG_008803.1:g.46291GA[6], NM_004415.4:c.5671_5674del, NM_004415.4:c.5673_5674del, NM_004415.4:c.5673_5674dup, NM_004415.3:c.5671_5674del, NM_004415.3:c.5673_5674del, NM_004415.3:c.5673_5674dup, NM_004415.2:c.5671_5674del, NM_004415.2:c.5673_5674del, NM_004415.2:c.5673_5674dup, NM_001008844.3:c.3874_3877del, NM_001008844.3:c.3876_3877del, NM_001008844.3:c.3876_3877dup, NM_001008844.2:c.3874_3877del, NM_001008844.2:c.3876_3877del, NM_001008844.2:c.3876_3877dup, NM_001008844.1:c.3874_3877del, NM_001008844.1:c.3876_3877del, NM_001008844.1:c.3876_3877dup, NM_001319034.2:c.4342_4345del, NM_001319034.2:c.4344_4345del, NM_001319034.2:c.4344_4345dup, NM_001319034.1:c.4342_4345del, NM_001319034.1:c.4344_4345del, NM_001319034.1:c.4344_4345dup, NP_004406.2:p.Glu1891fs, NP_004406.2:p.Lys1892fs, NP_004406.2:p.Lys1892fs, NP_001008844.1:p.Glu1292fs, NP_001008844.1:p.Lys1293fs, NP_001008844.1:p.Lys1293fs, NP_001305963.1:p.Glu1448fs, NP_001305963.1:p.Lys1449fs, NP_001305963.1:p.Lys1449fs

Select item 148779850211.

rs1487798502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:7583711 (GRCh38)
6:7583944 (GRCh37)
Canonical SPDI:: NC_000006.12:7583710:C:G,NC_000006.12:7583710:C:T
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7583711C>G, NC_000006.12:g.7583711C>T, NC_000006.11:g.7583944C>G, NC_000006.11:g.7583944C>T, NG_008803.1:g.47075C>G, NG_008803.1:g.47075C>T, NM_004415.4:c.6449C>G, NM_004415.4:c.6449C>T, NM_004415.3:c.6449C>G, NM_004415.3:c.6449C>T, NM_004415.2:c.6449C>G, NM_004415.2:c.6449C>T, NM_001008844.3:c.4652C>G, NM_001008844.3:c.4652C>T, NM_001008844.2:c.4652C>G, NM_001008844.2:c.4652C>T, NM_001008844.1:c.4652C>G, NM_001008844.1:c.4652C>T, NM_001319034.2:c.5120C>G, NM_001319034.2:c.5120C>T, NM_001319034.1:c.5120C>G, NM_001319034.1:c.5120C>T, NP_004406.2:p.Ala2150Gly, NP_004406.2:p.Ala2150Val, NP_001008844.1:p.Ala1551Gly, NP_001008844.1:p.Ala1551Val, NP_001305963.1:p.Ala1707Gly, NP_001305963.1:p.Ala1707Val

Select item 148776820112.

rs1487768201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:7584760 (GRCh38)
6:7584993 (GRCh37)
Canonical SPDI:: NC_000006.12:7584759:G:A
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7584760G>A, NC_000006.11:g.7584993G>A, NG_008803.1:g.48124G>A, NM_004415.4:c.7498G>A, NM_004415.3:c.7498G>A, NM_004415.2:c.7498G>A, NM_001008844.3:c.5701G>A, NM_001008844.2:c.5701G>A, NM_001008844.1:c.5701G>A, NM_001319034.2:c.6169G>A, NM_001319034.1:c.6169G>A, NP_004406.2:p.Glu2500Lys, NP_001008844.1:p.Glu1901Lys, NP_001305963.1:p.Glu2057Lys

Select item 148746101413.

rs1487461014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:7579649 (GRCh38)
6:7579882 (GRCh37)
Canonical SPDI:: NC_000006.12:7579648:T:C
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7579649T>C, NC_000006.11:g.7579882T>C, NG_008803.1:g.43013T>C, NM_004415.4:c.3459T>C, NM_004415.3:c.3459T>C, NM_004415.2:c.3459T>C, NM_001008844.3:c.3459T>C, NM_001008844.2:c.3459T>C, NM_001008844.1:c.3459T>C, NM_001319034.2:c.3459T>C, NM_001319034.1:c.3459T>C

Select item 148543082714.

rs1485430827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:7585635 (GRCh38)
6:7585868 (GRCh37)
Canonical SPDI:: NC_000006.12:7585634:C:T
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7585635C>T, NC_000006.11:g.7585868C>T, NG_008803.1:g.48999C>T, NM_004415.4:c.8373C>T, NM_004415.3:c.8373C>T, NM_004415.2:c.8373C>T, NM_001008844.3:c.6576C>T, NM_001008844.2:c.6576C>T, NM_001008844.1:c.6576C>T, NM_001319034.2:c.7044C>T, NM_001319034.1:c.7044C>T

Select item 148531394415.

rs1485313944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:7583149 (GRCh38)
6:7583382 (GRCh37)
Canonical SPDI:: NC_000006.12:7583148:A:G
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.7583149A>G, NC_000006.11:g.7583382A>G, NG_008803.1:g.46513A>G, NM_004415.4:c.5887A>G, NM_004415.3:c.5887A>G, NM_004415.2:c.5887A>G, NM_001008844.3:c.4090A>G, NM_001008844.2:c.4090A>G, NM_001008844.1:c.4090A>G, NM_001319034.2:c.4558A>G, NM_001319034.1:c.4558A>G, NP_004406.2:p.Thr1963Ala, NP_001008844.1:p.Thr1364Ala, NP_001305963.1:p.Thr1520Ala

Select item 148445621316.

rs1484456213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:7583605 (GRCh38)
6:7583838 (GRCh37)
Canonical SPDI:: NC_000006.12:7583604:T:C,NC_000006.12:7583604:T:G
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000006.12:g.7583605T>C, NC_000006.12:g.7583605T>G, NC_000006.11:g.7583838T>C, NC_000006.11:g.7583838T>G, NG_008803.1:g.46969T>C, NG_008803.1:g.46969T>G, NM_004415.4:c.6343T>C, NM_004415.4:c.6343T>G, NM_004415.3:c.6343T>C, NM_004415.3:c.6343T>G, NM_004415.2:c.6343T>C, NM_004415.2:c.6343T>G, NM_001008844.3:c.4546T>C, NM_001008844.3:c.4546T>G, NM_001008844.2:c.4546T>C, NM_001008844.2:c.4546T>G, NM_001008844.1:c.4546T>C, NM_001008844.1:c.4546T>G, NM_001319034.2:c.5014T>C, NM_001319034.2:c.5014T>G, NM_001319034.1:c.5014T>C, NM_001319034.1:c.5014T>G, NP_004406.2:p.Leu2115Val, NP_001008844.1:p.Leu1516Val, NP_001305963.1:p.Leu1672Val

Select item 148425246917.

rs1484252469 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTGC [Show Flanks]
Chromosome:: 6:7585552 (GRCh38)
6:7585786 (GRCh37)
Canonical SPDI:: NC_000006.12:7585552:TGC:TGCTTGC
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000006.12:g.7585555_7585556insTTGC, NC_000006.11:g.7585788_7585789insTTGC, NG_008803.1:g.48919_48920insTTGC, NM_004415.4:c.8293_8294insTTGC, NM_004415.3:c.8293_8294insTTGC, NM_004415.2:c.8293_8294insTTGC, NM_001008844.3:c.6496_6497insTTGC, NM_001008844.2:c.6496_6497insTTGC, NM_001008844.1:c.6496_6497insTTGC, NM_001319034.2:c.6964_6965insTTGC, NM_001319034.1:c.6964_6965insTTGC, NP_004406.2:p.Gln2765fs, NP_001008844.1:p.Gln2166fs, NP_001305963.1:p.Gln2322fs

Select item 148396596618.

rs1483965966 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:7559373 (GRCh38)
6:7559606 (GRCh37)
Canonical SPDI:: NC_000006.12:7559372:A:C
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.7559373A>C, NC_000006.11:g.7559606A>C, NG_008803.1:g.22737A>C, NM_004415.4:c.570A>C, NM_004415.3:c.570A>C, NM_004415.2:c.570A>C, NM_001008844.3:c.570A>C, NM_001008844.2:c.570A>C, NM_001008844.1:c.570A>C, NM_001319034.2:c.570A>C, NM_001319034.1:c.570A>C, NM_001406591.1:c.570A>C, NP_004406.2:p.Glu190Asp, NP_001008844.1:p.Glu190Asp, NP_001305963.1:p.Glu190Asp

Select item 148386411319.

rs1483864113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:7579486 (GRCh38)
6:7579719 (GRCh37)
Canonical SPDI:: NC_000006.12:7579485:A:G
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.7579486A>G, NC_000006.11:g.7579719A>G, NG_008803.1:g.42850A>G, NM_004415.4:c.3296A>G, NM_004415.3:c.3296A>G, NM_004415.2:c.3296A>G, NM_001008844.3:c.3296A>G, NM_001008844.2:c.3296A>G, NM_001008844.1:c.3296A>G, NM_001319034.2:c.3296A>G, NM_001319034.1:c.3296A>G, NP_004406.2:p.Lys1099Arg, NP_001008844.1:p.Lys1099Arg, NP_001305963.1:p.Lys1099Arg

Select item 148344570820.

rs1483445708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:7577787 (GRCh38)
6:7578020 (GRCh37)
Canonical SPDI:: NC_000006.12:7577786:G:C
Gene:: DSP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.7577787G>C, NC_000006.11:g.7578020G>C, NG_008803.1:g.41151G>C, NM_004415.4:c.2886G>C, NM_004415.3:c.2886G>C, NM_004415.2:c.2886G>C, NM_001008844.3:c.2886G>C, NM_001008844.2:c.2886G>C, NM_001008844.1:c.2886G>C, NM_001319034.2:c.2886G>C, NM_001319034.1:c.2886G>C, NP_004406.2:p.Glu962Asp, NP_001008844.1:p.Glu962Asp, NP_001305963.1:p.Glu962Asp

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