Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7415787G>A , CM000679.2:g.7415787G>A | GRCh38 |
| NC_000017.10:g.7319106G>A , CM000679.1:g.7319106G>A | GRCh37 |
| NC_000017.9:g.7259830G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302926.7:c.1314G>A MANE Select | ENSP00000305288.2:p.Trp438Ter | |
| ENST00000302926.6:c.1314G>A | ENSP00000305288.2:p.Trp438Ter | |
| ENST00000575301.5:c.1314G>A | ENSP00000461168.1:p.Trp438Ter | |
| NM_020795.3:c.1314G>A | NP_065846.1:p.Trp438Ter | |
| XM_005256744.2:c.1263G>A | XP_005256801.1:p.Trp421Ter | |
| XM_005256744.4:c.1263G>A | XP_005256801.1:p.Trp421Ter | |
| XM_017024897.1:c.777G>A | XP_016880386.1:p.Trp259Ter | |
| NM_020795.4:c.1314G>A MANE Select | NP_065846.1:p.Trp438Ter |