Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704581G>T , CM000668.2:g.42704581G>T | GRCh38 |
| NC_000006.11:g.42672319G>T , CM000668.1:g.42672319G>T | GRCh37 |
| NC_000006.10:g.42780297G>T | NCBI36 |
| NG_009176.1:g.23040C>A | |
| NG_009176.2:g.23040C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.612C>A MANE Select | NP_000313.2:p.Tyr204Ter |
| ENST00000230381.7:c.612C>A MANE Select | ENSP00000230381.5:p.Tyr204Ter |
| NM_000322.4:c.612C>A | NP_000313.2:p.Tyr204Ter |
| ENST00000230381.6:c.612C>A | ENSP00000230381.5:p.Tyr204Ter |
| XR_427834.2:n.1267C>A | |
| XR_427834.4:n.1317C>A | |
| XR_926295.1:n.1449C>A | |
| XR_926295.3:n.1499C>A |