Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48750334G>C , CM000681.2:g.48750334G>C | GRCh38 |
| NC_000019.9:g.49253591G>C , CM000681.1:g.49253591G>C | GRCh37 |
| NC_000019.8:g.53945403G>C | NCBI36 |
| NG_007510.1:g.10057C>G | |
| NG_007510.2:g.10057C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001384359.1:c.948C>G MANE Select | NP_001371288.1:p.Tyr316Ter |
| ENST00000645652.2:c.948C>G MANE Select | ENSP00000494643.1:p.Tyr316Ter |
| NM_000148.3:c.948C>G | NP_000139.1:p.Tyr316Ter |
| NM_000148.4:c.948C>G | NP_000139.1:p.Tyr316Ter |
| NM_001329877.1:c.948C>G | NP_001316806.1:p.Tyr316Ter |
| ENST00000310160.7:c.948C>G | ENSP00000312021.3:p.Tyr316Ter |
| XM_006723127.1:c.1317C>G | XP_006723190.1:p.Tyr439Ter |