Linked Data
dbSNP Id:
rs183137172
ExAC:
6:31236904 T / A
gnomAD v2:
6-31236904-T-A
gnomAD v3:
6-31269127-T-A
gnomAD v4:
6-31269127-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269127T>A , CM000668.2:g.31269127T>A | GRCh38 |
| NC_000006.11:g.31236904T>A , CM000668.1:g.31236904T>A | GRCh37 |
| NC_000006.10:g.31344883T>A | NCBI36 |
| NG_029422.2:g.8005A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.*42A>T MANE Select | ENSP00000365402.5:n.*42A>T | |
| ENST00000376228.9:c.*42A>T | ENSP00000365402.5:n.*42A>T | |
| ENST00000376237.8:c.*730A>T | ENSP00000365412.4:n.*730A>T | |
| ENST00000383329.7:c.*42A>T | ENSP00000372819.3:n.*42A>T | |
| ENST00000466892.5:n.376A>T | ||
| ENST00000470363.5:n.901A>T | ||
| ENST00000487245.5:n.1502A>T | ||
| NM_002117.5:c.*42A>T | NP_002108.4:n.*42A>T | |
| NM_002117.6:c.*42A>T MANE Select | NP_002108.4:n.*42A>T |