Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8003873C>T , CM000679.2:g.8003873C>T | GRCh38 |
| NC_000017.10:g.7907191C>T , CM000679.1:g.7907191C>T | GRCh37 |
| NC_000017.9:g.7847916C>T | NCBI36 |
| NG_009092.1:g.6204C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000180.4:c.743C>T MANE Select | NP_000171.1:p.Ser248Leu |
| ENST00000254854.5:c.743C>T MANE Select | ENSP00000254854.4:p.Ser248Leu |
| NM_000180.3:c.743C>T | NP_000171.1:p.Ser248Leu |
| ENST00000254854.4:c.743C>T | ENSP00000254854.4:p.Ser248Leu |
| XM_011523816.1:c.743C>T | XP_011522118.1:p.Ser248Leu |