Linked Data
dbSNP Id:
rs11757919
ExAC:
6:31237846 G / A
gnomAD v2:
6-31237846-G-A
gnomAD v3:
6-31270069-G-A
gnomAD v4:
6-31270069-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270069G>A , CM000668.2:g.31270069G>A | GRCh38 |
| NC_000006.11:g.31237846G>A , CM000668.1:g.31237846G>A | GRCh37 |
| NC_000006.10:g.31345825G>A | NCBI36 |
| NG_029422.2:g.7063C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.912C>T MANE Select | ENSP00000365402.5:p.Pro304= | |
| ENST00000376228.9:c.912C>T | ENSP00000365402.5:p.Pro304= | |
| ENST00000376237.8:c.*499C>T | ENSP00000365412.4:n.*499C>T | |
| ENST00000383329.7:c.912C>T | ENSP00000372819.3:p.Pro304= | |
| ENST00000470363.5:n.230C>T | ||
| ENST00000487245.5:n.1271C>T | ||
| NM_002117.5:c.912C>T | NP_002108.4:p.Pro304= | |
| NM_002117.6:c.912C>T MANE Select | NP_002108.4:p.Pro304= |