Linked Data
dbSNP Id:
rs576419119
ExAC:
9:128001187 T / A
gnomAD v2:
9-128001187-T-A
gnomAD v4:
9-125238908-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.125238908T>A , CM000671.2:g.125238908T>A | GRCh38 |
| NC_000009.11:g.128001187T>A , CM000671.1:g.128001187T>A | GRCh37 |
| NC_000009.10:g.127041008T>A | NCBI36 |
| NG_027761.1:g.7480A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324460.7:c.996+33A>T MANE Select | ENSP00000324173.6:n.996+33A>T | |
| ENST00000679355.1:n.1271A>T | ||
| ENST00000679475.1:n.1580+33A>T | ||
| ENST00000680032.1:c.996+33A>T | ENSP00000506285.1:n.996+33A>T | |
| ENST00000680234.1:n.1252+33A>T | ||
| ENST00000680257.1:n.1252+33A>T | ||
| ENST00000680272.1:c.996+33A>T | ENSP00000506097.1:n.996+33A>T | |
| ENST00000680494.1:n.2340A>T | ||
| ENST00000680640.1:n.1947+33A>T | ||
| ENST00000681045.1:n.1876+33A>T | ||
| ENST00000681424.1:n.1271A>T | ||
| ENST00000681540.1:n.1252+33A>T | ||
| ENST00000681544.1:n.1327+33A>T | ||
| ENST00000681675.1:n.1876+33A>T | ||
| ENST00000681774.1:n.2218+33A>T | ||
| ENST00000324460.6:c.996+33A>T | ENSP00000324173.6:n.996+33A>T | |
| NM_005347.4:c.996+33A>T | NP_005338.1:n.996+33A>T | |
| NM_005347.5:c.996+33A>T MANE Select | NP_005338.1:n.996+33A>T |