Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8587797G>T , CM000685.2:g.8587797G>T | GRCh38 |
| NC_000023.10:g.8555838G>T , CM000685.1:g.8555838G>T | GRCh37 |
| NC_000023.9:g.8515838G>T | NCBI36 |
| NG_007088.1:g.149390C>A | |
| NG_007088.2:g.149390C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000216.4:c.723C>A MANE Select | NP_000207.2:p.Ala241= |
| ENST00000262648.8:c.723C>A MANE Select | ENSP00000262648.3:p.Ala241= |
| NM_000216.2:c.723C>A | NP_000207.2:p.Ala241= |
| NM_000216.3:c.723C>A | NP_000207.2:p.Ala241= |
| ENST00000262648.7:c.723C>A | ENSP00000262648.3:p.Ala241= |
| ENST00000619786.1:c.720C>A | ENSP00000478734.1:p.Ala240= |
| XM_005274501.3:c.723C>A | XP_005274558.1:p.Ala241= |
| XM_005274501.4:c.723C>A | XP_005274558.1:p.Ala241= |