Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524815C>A , CM000680.2:g.31524815C>A | GRCh38 |
| NC_000018.9:g.29104778C>A , CM000680.1:g.29104778C>A | GRCh37 |
| NC_000018.8:g.27358776C>A | NCBI36 |
| NG_007072.3:g.31574C>A , LRG_397:g.31574C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.941C>A MANE Select | NP_001934.2:p.Ser314Ter |
| ENST00000261590.13:c.941C>A MANE Select | ENSP00000261590.8:p.Ser314Ter |
| NM_001943.3:c.941C>A , LRG_397t1:c.941C>A | NP_001934.2:p.Ser314Ter |
| NM_001943.4:c.941C>A | NP_001934.2:p.Ser314Ter |
| ENST00000261590.12:c.941C>A | ENSP00000261590.8:p.Ser314Ter |
| ENST00000682087.1:c.772C>A | |
| ENST00000682087.2:n.772C>A | |
| ENST00000683614.1:c.772C>A | |
| ENST00000683614.2:n.772C>A | |
| XM_024451095.1:c.407C>A | XP_024306863.1:p.Ser136Ter |