Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.57908673G>T , CM000685.2:g.57908673G>T | GRCh38 |
| NC_000023.10:g.57935107G>T , CM000685.1:g.57935107G>T | GRCh37 |
| NC_000023.9:g.57951832G>T | NCBI36 |
| NG_015974.1:g.6961C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007156.5:c.1748C>A MANE Select | NP_009087.1:p.Ser583Tyr |
| ENST00000358697.6:c.1748C>A MANE Select | ENSP00000351530.4:p.Ser583Tyr |
| NM_007156.4:c.1748C>A | NP_009087.1:p.Ser583Tyr |
| ENST00000358697.5:c.1748C>A | ENSP00000351530.4:p.Ser583Tyr |