Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7417748C>T , CM000679.2:g.7417748C>T | GRCh38 |
| NC_000017.10:g.7321067C>T , CM000679.1:g.7321067C>T | GRCh37 |
| NC_000017.9:g.7261791C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302926.7:c.2457C>T MANE Select | ENSP00000305288.2:p.Ala819= | |
| ENST00000302926.6:c.2457C>T | ENSP00000305288.2:p.Ala819= | |
| ENST00000575301.5:c.2457C>T | ENSP00000461168.1:p.Ala819= | |
| NM_020795.3:c.2457C>T | NP_065846.1:p.Ala819= | |
| XM_005256744.2:c.2406C>T | XP_005256801.1:p.Ala802= | |
| XM_005256744.4:c.2406C>T | XP_005256801.1:p.Ala802= | |
| XM_017024897.1:c.1920C>T | XP_016880386.1:p.Ala640= | |
| NM_020795.4:c.2457C>T MANE Select | NP_065846.1:p.Ala819= |