SNP Links for Protein (Select 744066830) - SNP

Links from Protein

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Select item 14757977441.

rs1475797744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5863202 (GRCh38)
20:5843848 (GRCh37)
Canonical SPDI:: NC_000020.11:5863201:A:G
Gene:: SHLD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.5863202A>G, NC_000020.10:g.5843848A>G, NM_152504.4:c.357A>G, NM_152504.3:c.357A>G, NM_152504.2:c.357A>G, XM_011529177.3:c.396A>G, XM_011529177.2:c.396A>G, XM_011529177.1:c.396A>G, NM_001303477.2:c.357A>G, NM_001303477.1:c.357A>G, NM_001303478.2:c.261A>G, NM_001303478.1:c.261A>G, XM_047439931.1:c.564A>G

Select item 14720508262.

rs1472050826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5863111 (GRCh38)
20:5843757 (GRCh37)
Canonical SPDI:: NC_000020.11:5863110:A:G
Gene:: SHLD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.5863111A>G, NC_000020.10:g.5843757A>G, NM_152504.4:c.266A>G, NM_152504.3:c.266A>G, NM_152504.2:c.266A>G, XM_011529177.3:c.305A>G, XM_011529177.2:c.305A>G, XM_011529177.1:c.305A>G, NM_001303477.2:c.266A>G, NM_001303477.1:c.266A>G, NM_001303478.2:c.170A>G, NM_001303478.1:c.170A>G, XM_047439931.1:c.473A>G, NP_689717.2:p.Lys89Arg, XP_011527479.1:p.Lys102Arg, NP_001290406.1:p.Lys89Arg, NP_001290407.1:p.Lys57Arg, XP_047295887.1:p.Lys158Arg

Select item 14685385313.

rs1468538531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5863112 (GRCh38)
20:5843758 (GRCh37)
Canonical SPDI:: NC_000020.11:5863111:G:A
Gene:: SHLD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5863112G>A, NC_000020.10:g.5843758G>A, NM_152504.4:c.267G>A, NM_152504.3:c.267G>A, NM_152504.2:c.267G>A, XM_011529177.3:c.306G>A, XM_011529177.2:c.306G>A, XM_011529177.1:c.306G>A, NM_001303477.2:c.267G>A, NM_001303477.1:c.267G>A, NM_001303478.2:c.171G>A, NM_001303478.1:c.171G>A, XM_047439931.1:c.474G>A

Select item 14650696634.

rs1465069663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5863391 (GRCh38)
20:5844037 (GRCh37)
Canonical SPDI:: NC_000020.11:5863390:A:G
Gene:: SHLD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.5863391A>G, NC_000020.10:g.5844037A>G, NM_152504.4:c.546A>G, NM_152504.3:c.546A>G, NM_152504.2:c.546A>G, XM_011529177.3:c.585A>G, XM_011529177.2:c.585A>G, XM_011529177.1:c.585A>G, NM_001303477.2:c.546A>G, NM_001303477.1:c.546A>G, NM_001303478.2:c.450A>G, NM_001303478.1:c.450A>G, XM_047439931.1:c.753A>G

Select item 14620113275.

rs1462011327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:5863140 (GRCh38)
20:5843786 (GRCh37)
Canonical SPDI:: NC_000020.11:5863139:C:G
Gene:: SHLD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5863140C>G, NC_000020.10:g.5843786C>G, NM_152504.4:c.295C>G, NM_152504.3:c.295C>G, NM_152504.2:c.295C>G, XM_011529177.3:c.334C>G, XM_011529177.2:c.334C>G, XM_011529177.1:c.334C>G, NM_001303477.2:c.295C>G, NM_001303477.1:c.295C>G, NM_001303478.2:c.199C>G, NM_001303478.1:c.199C>G, XM_047439931.1:c.502C>G, NP_689717.2:p.Leu99Val, XP_011527479.1:p.Leu112Val, NP_001290406.1:p.Leu99Val, NP_001290407.1:p.Leu67Val, XP_047295887.1:p.Leu168Val

Select item 14557165536.

rs1455716553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5863448 (GRCh38)
20:5844094 (GRCh37)
Canonical SPDI:: NC_000020.11:5863447:A:G
Gene:: SHLD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.5863448A>G, NC_000020.10:g.5844094A>G, NM_152504.4:c.603A>G, NM_152504.3:c.603A>G, NM_152504.2:c.603A>G, XM_011529177.3:c.642A>G, XM_011529177.2:c.642A>G, XM_011529177.1:c.642A>G, NM_001303477.2:c.603A>G, NM_001303477.1:c.603A>G, NM_001303478.2:c.507A>G, NM_001303478.1:c.507A>G, XM_047439931.1:c.810A>G

Select item 14533758577.

rs1453375857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5863122 (GRCh38)
20:5843768 (GRCh37)
Canonical SPDI:: NC_000020.11:5863121:G:A
Gene:: SHLD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.5863122G>A, NC_000020.10:g.5843768G>A, NM_152504.4:c.277G>A, NM_152504.3:c.277G>A, NM_152504.2:c.277G>A, XM_011529177.3:c.316G>A, XM_011529177.2:c.316G>A, XM_011529177.1:c.316G>A, NM_001303477.2:c.277G>A, NM_001303477.1:c.277G>A, NM_001303478.2:c.181G>A, NM_001303478.1:c.181G>A, XM_047439931.1:c.484G>A, NP_689717.2:p.Asp93Asn, XP_011527479.1:p.Asp106Asn, NP_001290406.1:p.Asp93Asn, NP_001290407.1:p.Asp61Asn, XP_047295887.1:p.Asp162Asn

Select item 14517625088.

rs1451762508 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5863327 (GRCh38)
20:5843973 (GRCh37)
Canonical SPDI:: NC_000020.11:5863326:A:G
Gene:: SHLD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.5863327A>G, NC_000020.10:g.5843973A>G, NM_152504.4:c.482A>G, NM_152504.3:c.482A>G, NM_152504.2:c.482A>G, XM_011529177.3:c.521A>G, XM_011529177.2:c.521A>G, XM_011529177.1:c.521A>G, NM_001303477.2:c.482A>G, NM_001303477.1:c.482A>G, NM_001303478.2:c.386A>G, NM_001303478.1:c.386A>G, XM_047439931.1:c.689A>G, NP_689717.2:p.Gln161Arg, XP_011527479.1:p.Gln174Arg, NP_001290406.1:p.Gln161Arg, NP_001290407.1:p.Gln129Arg, XP_047295887.1:p.Gln230Arg

Select item 14494899189.

rs1449489918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:5863160 (GRCh38)
20:5843806 (GRCh37)
Canonical SPDI:: NC_000020.11:5863159:G:A,NC_000020.11:5863159:G:C
Gene:: SHLD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00003/8 (TOPMED)
HGVS:: NC_000020.11:g.5863160G>A, NC_000020.11:g.5863160G>C, NC_000020.10:g.5843806G>A, NC_000020.10:g.5843806G>C, NM_152504.4:c.315G>A, NM_152504.4:c.315G>C, NM_152504.3:c.315G>A, NM_152504.3:c.315G>C, NM_152504.2:c.315G>A, NM_152504.2:c.315G>C, XM_011529177.3:c.354G>A, XM_011529177.3:c.354G>C, XM_011529177.2:c.354G>A, XM_011529177.2:c.354G>C, XM_011529177.1:c.354G>A, XM_011529177.1:c.354G>C, NM_001303477.2:c.315G>A, NM_001303477.2:c.315G>C, NM_001303477.1:c.315G>A, NM_001303477.1:c.315G>C, NM_001303478.2:c.219G>A, NM_001303478.2:c.219G>C, NM_001303478.1:c.219G>A, NM_001303478.1:c.219G>C, XM_047439931.1:c.522G>A, XM_047439931.1:c.522G>C, NP_689717.2:p.Met105Ile, NP_689717.2:p.Met105Ile, XP_011527479.1:p.Met118Ile, XP_011527479.1:p.Met118Ile, NP_001290406.1:p.Met105Ile, NP_001290406.1:p.Met105Ile, NP_001290407.1:p.Met73Ile, NP_001290407.1:p.Met73Ile, XP_047295887.1:p.Met174Ile, XP_047295887.1:p.Met174Ile

Select item 144533953410.

rs1445339534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5863430 (GRCh38)
20:5844076 (GRCh37)
Canonical SPDI:: NC_000020.11:5863429:C:T
Gene:: SHLD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5863430C>T, NC_000020.10:g.5844076C>T, NM_152504.4:c.585C>T, NM_152504.3:c.585C>T, NM_152504.2:c.585C>T, XM_011529177.3:c.624C>T, XM_011529177.2:c.624C>T, XM_011529177.1:c.624C>T, NM_001303477.2:c.585C>T, NM_001303477.1:c.585C>T, NM_001303478.2:c.489C>T, NM_001303478.1:c.489C>T, XM_047439931.1:c.792C>T

Select item 143691962611.

rs1436919626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:5863395 (GRCh38)
20:5844041 (GRCh37)
Canonical SPDI:: NC_000020.11:5863394:C:G
Gene:: SHLD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.5863395C>G, NC_000020.10:g.5844041C>G, NM_152504.4:c.550C>G, NM_152504.3:c.550C>G, NM_152504.2:c.550C>G, XM_011529177.3:c.589C>G, XM_011529177.2:c.589C>G, XM_011529177.1:c.589C>G, NM_001303477.2:c.550C>G, NM_001303477.1:c.550C>G, NM_001303478.2:c.454C>G, NM_001303478.1:c.454C>G, XM_047439931.1:c.757C>G, NP_689717.2:p.Pro184Ala, XP_011527479.1:p.Pro197Ala, NP_001290406.1:p.Pro184Ala, NP_001290407.1:p.Pro152Ala, XP_047295887.1:p.Pro253Ala

Select item 143632869012.

rs1436328690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5863358 (GRCh38)
20:5844004 (GRCh37)
Canonical SPDI:: NC_000020.11:5863357:A:G
Gene:: SHLD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5863358A>G, NC_000020.10:g.5844004A>G, NM_152504.4:c.513A>G, NM_152504.3:c.513A>G, NM_152504.2:c.513A>G, XM_011529177.3:c.552A>G, XM_011529177.2:c.552A>G, XM_011529177.1:c.552A>G, NM_001303477.2:c.513A>G, NM_001303477.1:c.513A>G, NM_001303478.2:c.417A>G, NM_001303478.1:c.417A>G, XM_047439931.1:c.720A>G

Select item 143576193213.

rs1435761932 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 20:5863262 (GRCh38)
20:5843908 (GRCh37)
Canonical SPDI:: NC_000020.11:5863261:G:
Gene:: SHLD1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5863262del, NC_000020.10:g.5843908del, NM_152504.4:c.417del, NM_152504.3:c.417del, NM_152504.2:c.417del, XM_011529177.3:c.456del, XM_011529177.2:c.456del, XM_011529177.1:c.456del, NM_001303477.2:c.417del, NM_001303477.1:c.417del, NM_001303478.2:c.321del, NM_001303478.1:c.321del, XM_047439931.1:c.624del, NP_689717.2:p.Lys139fs, XP_011527479.1:p.Lys152fs, NP_001290406.1:p.Lys139fs, NP_001290407.1:p.Lys107fs, XP_047295887.1:p.Lys208fs

Select item 143321884414.

rs1433218844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:5863040 (GRCh38)
20:5843686 (GRCh37)
Canonical SPDI:: NC_000020.11:5863039:T:C
Gene:: SHLD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5863040T>C, NC_000020.10:g.5843686T>C, NM_152504.4:c.195T>C, NM_152504.3:c.195T>C, NM_152504.2:c.195T>C, XM_011529177.3:c.234T>C, XM_011529177.2:c.234T>C, XM_011529177.1:c.234T>C, NM_001303477.2:c.195T>C, NM_001303477.1:c.195T>C, NM_001303478.2:c.99T>C, NM_001303478.1:c.99T>C, XM_047439931.1:c.402T>C

Select item 141183530015.

rs1411835300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5863201 (GRCh38)
20:5843847 (GRCh37)
Canonical SPDI:: NC_000020.11:5863200:C:T
Gene:: SHLD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5863201C>T, NC_000020.10:g.5843847C>T, NM_152504.4:c.356C>T, NM_152504.3:c.356C>T, NM_152504.2:c.356C>T, XM_011529177.3:c.395C>T, XM_011529177.2:c.395C>T, XM_011529177.1:c.395C>T, NM_001303477.2:c.356C>T, NM_001303477.1:c.356C>T, NM_001303478.2:c.260C>T, NM_001303478.1:c.260C>T, XM_047439931.1:c.563C>T, NP_689717.2:p.Ala119Val, XP_011527479.1:p.Ala132Val, NP_001290406.1:p.Ala119Val, NP_001290407.1:p.Ala87Val, XP_047295887.1:p.Ala188Val

Select item 140492143516.

rs1404921435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5863293 (GRCh38)
20:5843939 (GRCh37)
Canonical SPDI:: NC_000020.11:5863292:G:A
Gene:: SHLD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.5863293G>A, NC_000020.10:g.5843939G>A, NM_152504.4:c.448G>A, NM_152504.3:c.448G>A, NM_152504.2:c.448G>A, XM_011529177.3:c.487G>A, XM_011529177.2:c.487G>A, XM_011529177.1:c.487G>A, NM_001303477.2:c.448G>A, NM_001303477.1:c.448G>A, NM_001303478.2:c.352G>A, NM_001303478.1:c.352G>A, XM_047439931.1:c.655G>A, NP_689717.2:p.Val150Met, XP_011527479.1:p.Val163Met, NP_001290406.1:p.Val150Met, NP_001290407.1:p.Val118Met, XP_047295887.1:p.Val219Met

Select item 140281203617.

rs1402812036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:5863135 (GRCh38)
20:5843781 (GRCh37)
Canonical SPDI:: NC_000020.11:5863134:A:T
Gene:: SHLD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5863135A>T, NC_000020.10:g.5843781A>T, NM_152504.4:c.290A>T, NM_152504.3:c.290A>T, NM_152504.2:c.290A>T, XM_011529177.3:c.329A>T, XM_011529177.2:c.329A>T, XM_011529177.1:c.329A>T, NM_001303477.2:c.290A>T, NM_001303477.1:c.290A>T, NM_001303478.2:c.194A>T, NM_001303478.1:c.194A>T, XM_047439931.1:c.497A>T, NP_689717.2:p.Lys97Ile, XP_011527479.1:p.Lys110Ile, NP_001290406.1:p.Lys97Ile, NP_001290407.1:p.Lys65Ile, XP_047295887.1:p.Lys166Ile

Select item 139958725518.

rs1399587255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5863440 (GRCh38)
20:5844086 (GRCh37)
Canonical SPDI:: NC_000020.11:5863439:C:T
Gene:: SHLD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
HGVS:: NC_000020.11:g.5863440C>T, NC_000020.10:g.5844086C>T, NM_152504.4:c.595C>T, NM_152504.3:c.595C>T, NM_152504.2:c.595C>T, XM_011529177.3:c.634C>T, XM_011529177.2:c.634C>T, XM_011529177.1:c.634C>T, NM_001303477.2:c.595C>T, NM_001303477.1:c.595C>T, NM_001303478.2:c.499C>T, NM_001303478.1:c.499C>T, XM_047439931.1:c.802C>T, NP_689717.2:p.Gln199Ter, XP_011527479.1:p.Gln212Ter, NP_001290406.1:p.Gln199Ter, NP_001290407.1:p.Gln167Ter, XP_047295887.1:p.Gln268Ter

Select item 138266605219.

rs1382666052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5863375 (GRCh38)
20:5844021 (GRCh37)
Canonical SPDI:: NC_000020.11:5863374:C:T
Gene:: SHLD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5863375C>T, NC_000020.10:g.5844021C>T, NM_152504.4:c.530C>T, NM_152504.3:c.530C>T, NM_152504.2:c.530C>T, XM_011529177.3:c.569C>T, XM_011529177.2:c.569C>T, XM_011529177.1:c.569C>T, NM_001303477.2:c.530C>T, NM_001303477.1:c.530C>T, NM_001303478.2:c.434C>T, NM_001303478.1:c.434C>T, XM_047439931.1:c.737C>T, NP_689717.2:p.Thr177Ile, XP_011527479.1:p.Thr190Ile, NP_001290406.1:p.Thr177Ile, NP_001290407.1:p.Thr145Ile, XP_047295887.1:p.Thr246Ile

Select item 136891292720.

rs1368912927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5863153 (GRCh38)
20:5843799 (GRCh37)
Canonical SPDI:: NC_000020.11:5863152:A:G
Gene:: SHLD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
G=0.000684/2 (KOREAN)
HGVS:: NC_000020.11:g.5863153A>G, NC_000020.10:g.5843799A>G, NM_152504.4:c.308A>G, NM_152504.3:c.308A>G, NM_152504.2:c.308A>G, XM_011529177.3:c.347A>G, XM_011529177.2:c.347A>G, XM_011529177.1:c.347A>G, NM_001303477.2:c.308A>G, NM_001303477.1:c.308A>G, NM_001303478.2:c.212A>G, NM_001303478.1:c.212A>G, XM_047439931.1:c.515A>G, NP_689717.2:p.Tyr103Cys, XP_011527479.1:p.Tyr116Cys, NP_001290406.1:p.Tyr103Cys, NP_001290407.1:p.Tyr71Cys, XP_047295887.1:p.Tyr172Cys

dbSNP

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