Linked Data
dbSNP Id:
rs201836712
gnomAD v2:
1-186099181-G-T
gnomAD v3:
1-186130049-G-T
gnomAD v4:
1-186130049-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186130049G>T , CM000663.2:g.186130049G>T | GRCh38 |
| NC_000001.10:g.186099181G>T , CM000663.1:g.186099181G>T | GRCh37 |
| NC_000001.9:g.184365804G>T | NCBI36 |
| NG_011841.1:g.400499G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.12988G>T MANE Select | ENSP00000271588.4:p.Ala4330Ser | |
| ENST00000271588.8:c.12988G>T | ENSP00000271588.4:p.Ala4330Ser | |
| NM_031935.2:c.12988G>T | NP_114141.2:p.Ala4330Ser | |
| XM_011510037.1:c.12703G>T | XP_011508339.1:p.Ala4235Ser | |
| XM_011510038.1:c.12988G>T | XP_011508340.1:p.Ala4330Ser | |
| XM_011510039.1:c.12988G>T | XP_011508341.1:p.Ala4330Ser | |
| XM_011510038.3:c.12988G>T | XP_011508340.1:p.Ala4330Ser | |
| XM_017002437.1:c.11011G>T | XP_016857926.1:p.Ala3671Ser | |
| NM_031935.3:c.12988G>T MANE Select | NP_114141.2:p.Ala4330Ser |