Linked Data
dbSNP Id:
rs541766645
ExAC:
1:186064627 G / A
gnomAD v2:
1-186064627-G-A
gnomAD v3:
1-186095495-G-A
gnomAD v4:
1-186095495-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186095495G>A , CM000663.2:g.186095495G>A | GRCh38 |
| NC_000001.10:g.186064627G>A , CM000663.1:g.186064627G>A | GRCh37 |
| NC_000001.9:g.184331250G>A | NCBI36 |
| NG_011841.1:g.365945G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.10547G>A MANE Select | ENSP00000271588.4:p.Ser3516Asn | |
| ENST00000271588.8:c.10547G>A | ENSP00000271588.4:p.Ser3516Asn | |
| NM_031935.2:c.10547G>A | NP_114141.2:p.Ser3516Asn | |
| XM_011510037.1:c.10262G>A | XP_011508339.1:p.Ser3421Asn | |
| XM_011510038.1:c.10547G>A | XP_011508340.1:p.Ser3516Asn | |
| XM_011510039.1:c.10547G>A | XP_011508341.1:p.Ser3516Asn | |
| XM_011510038.3:c.10547G>A | XP_011508340.1:p.Ser3516Asn | |
| XM_017002437.1:c.8570G>A | XP_016857926.1:p.Ser2857Asn | |
| NM_031935.3:c.10547G>A MANE Select | NP_114141.2:p.Ser3516Asn |