Linked Data
dbSNP Id:
rs576380455
ExAC:
6:31236826 T / G
gnomAD v2:
6-31236826-T-G
gnomAD v3:
6-31269049-T-G
gnomAD v4:
6-31269049-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269049T>G , CM000668.2:g.31269049T>G | GRCh38 |
| NC_000006.11:g.31236826T>G , CM000668.1:g.31236826T>G | GRCh37 |
| NC_000006.10:g.31344805T>G | NCBI36 |
| NG_029422.2:g.8083A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.*120A>C MANE Select | ENSP00000365402.5:n.*120A>C | |
| ENST00000376228.9:c.*120A>C | ENSP00000365402.5:n.*120A>C | |
| ENST00000376237.8:c.*808A>C | ENSP00000365412.4:n.*808A>C | |
| ENST00000383329.7:c.*120A>C | ENSP00000372819.3:n.*120A>C | |
| ENST00000466892.5:n.454A>C | ||
| ENST00000470363.5:n.979A>C | ||
| ENST00000487245.5:n.1580A>C | ||
| NM_002117.5:c.*120A>C | NP_002108.4:n.*120A>C | |
| NM_002117.6:c.*120A>C MANE Select | NP_002108.4:n.*120A>C |