Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48750334G= , CM000681.2:g.48750334G= | GRCh38 |
| NC_000019.9:g.49253591G= , CM000681.1:g.49253591G= | GRCh37 |
| NC_000019.8:g.53945403G= | NCBI36 |
| NG_007510.1:g.10057C= | |
| NG_007510.2:g.10057C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001384359.1:c.948C= MANE Select | NP_001371288.1:p.Tyr316= |
| ENST00000645652.2:c.948C= MANE Select | ENSP00000494643.1:p.Tyr316= |
| NM_000148.3:c.948C= | NP_000139.1:p.Tyr316= |
| NM_000148.4:c.948C= | NP_000139.1:p.Tyr316= |
| NM_001329877.1:c.948C= | NP_001316806.1:p.Tyr316= |
| ENST00000310160.7:c.948C= | ENSP00000312021.3:p.Tyr316= |
| XM_006723127.1:c.1317C= | XP_006723190.1:p.Tyr439= |