Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33202848C>T , CM000681.2:g.33202848C>T | GRCh38 |
| NC_000019.9:g.33693754C>T , CM000681.1:g.33693754C>T | GRCh37 |
| NC_000019.8:g.38385594C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002333.4:c.122C>T MANE Select | NP_002324.2:p.Ala41Val |
| ENST00000253193.9:c.122C>T MANE Select | ENSP00000253193.6:p.Ala41Val |
| NM_002333.3:c.122C>T | NP_002324.2:p.Ala41Val |
| ENST00000253193.8:c.122C>T | ENSP00000253193.6:p.Ala41Val |
| ENST00000590275.1:n.43C>T | |
| ENST00000592484.5:c.-125C>T | ENSP00000476735.1:n.-125C>T |
| XM_005258945.1:c.122C>T | XP_005259002.1:p.Ala41Val |