Linked Data
dbSNP Id:
rs10490625
gnomAD v2:
2-118859556-G-A
gnomAD v3:
2-118101980-G-A
gnomAD v4:
2-118101980-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.118101980G>A , CM000664.2:g.118101980G>A | GRCh38 |
| NC_000002.11:g.118859556G>A , CM000664.1:g.118859556G>A | GRCh37 |
| NC_000002.10:g.118576026G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245787.9:c.245-1217G>A MANE Select | ENSP00000245787.4:n.245-1217G>A | |
| ENST00000245787.8:c.245-1217G>A | ENSP00000245787.4:n.245-1217G>A | |
| ENST00000411929.5:c.-114-1217G>A | ENSP00000400126.1:n.-114-1217G>A | |
| ENST00000467223.5:n.126-1217G>A | ||
| ENST00000471186.5:n.69-1217G>A | ||
| ENST00000485520.5:n.77-1217G>A | ||
| ENST00000614681.1:c.245-1217G>A | ENSP00000484179.1:n.245-1217G>A | |
| NM_016133.2:c.245-1217G>A | NP_057217.2:n.245-1217G>A | |
| XM_005263690.2:c.-80-1217G>A | XP_005263747.1:n.-80-1217G>A | |
| XM_011511292.1:c.245-1217G>A | XP_011509594.1:n.245-1217G>A | |
| NM_001321329.1:c.245-1217G>A | NP_001308258.1:n.245-1217G>A | |
| NM_001321330.1:c.-80-1217G>A | NP_001308259.1:n.-80-1217G>A | |
| NM_001321331.1:c.-80-1217G>A | NP_001308260.1:n.-80-1217G>A | |
| NM_001321332.1:c.-80-1217G>A | NP_001308261.1:n.-80-1217G>A | |
| NM_001321333.1:c.-80-1217G>A | NP_001308262.1:n.-80-1217G>A | |
| NM_016133.3:c.245-1217G>A | NP_057217.2:n.245-1217G>A | |
| NM_016133.4:c.245-1217G>A MANE Select | NP_057217.2:n.245-1217G>A | |
| NM_001321329.2:c.245-1217G>A | NP_001308258.1:n.245-1217G>A | |
| NM_001321330.2:c.-80-1217G>A | NP_001308259.1:n.-80-1217G>A | |
| NM_001321331.2:c.-80-1217G>A | NP_001308260.1:n.-80-1217G>A | |
| NM_001321332.2:c.-80-1217G>A | NP_001308261.1:n.-80-1217G>A | |
| NM_001321333.2:c.-80-1217G>A | NP_001308262.1:n.-80-1217G>A |