Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66043398C>T , CM000673.2:g.66043398C>T | GRCh38 |
| NC_000011.9:g.65810869C>T , CM000673.1:g.65810869C>T | GRCh37 |
| NC_000011.8:g.65567445C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312006.5:c.405G>A MANE Select | ENSP00000308591.3:p.Ala135= | |
| ENST00000312006.4:c.405G>A | ENSP00000308591.3:p.Ala135= | |
| ENST00000527878.1:c.405G>A | ENSP00000434829.1:p.Ala135= | |
| NM_033036.2:c.405G>A | NP_149025.1:p.Ala135= | |
| XM_017018519.1:c.471G>A | XP_016874008.1:p.Ala157= | |
| NM_033036.3:c.405G>A MANE Select | NP_149025.1:p.Ala135= |