Linked Data
ClinVar Variation Id:
2420910
ClinVar RCV Id:
RCV003122075
dbSNP Id:
rs201836712
ExAC:
1:186099181 G / A
gnomAD v2:
1-186099181-G-A
gnomAD v3:
1-186130049-G-A
gnomAD v4:
1-186130049-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186130049G>A , CM000663.2:g.186130049G>A | GRCh38 |
| NC_000001.10:g.186099181G>A , CM000663.1:g.186099181G>A | GRCh37 |
| NC_000001.9:g.184365804G>A | NCBI36 |
| NG_011841.1:g.400499G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.12988G>A MANE Select | ENSP00000271588.4:p.Ala4330Thr | |
| ENST00000271588.8:c.12988G>A | ENSP00000271588.4:p.Ala4330Thr | |
| NM_031935.2:c.12988G>A | NP_114141.2:p.Ala4330Thr | |
| XM_011510037.1:c.12703G>A | XP_011508339.1:p.Ala4235Thr | |
| XM_011510038.1:c.12988G>A | XP_011508340.1:p.Ala4330Thr | |
| XM_011510039.1:c.12988G>A | XP_011508341.1:p.Ala4330Thr | |
| XM_011510038.3:c.12988G>A | XP_011508340.1:p.Ala4330Thr | |
| XM_017002437.1:c.11011G>A | XP_016857926.1:p.Ala3671Thr | |
| NM_031935.3:c.12988G>A MANE Select | NP_114141.2:p.Ala4330Thr |