Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52567115C= , CM000674.2:g.52567115C= | GRCh38 |
| NC_000012.11:g.52960899C= , CM000674.1:g.52960899C= | GRCh37 |
| NC_000012.10:g.51247166C= | NCBI36 |
| NG_012321.1:g.11711G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_175053.4:c.1444G= MANE Select | NP_778223.2:p.Asp482= |
| ENST00000305620.3:c.1444G= MANE Select | ENSP00000307240.2:p.Asp482= |
| NM_175053.3:c.1444G= | NP_778223.2:p.Asp482= |
| ENST00000305620.2:c.1444G= | ENSP00000307240.2:p.Asp482= |
| ENST00000546384.1:n.431G= | |
| ENST00000549343.5:c.1486G= | ENSP00000447447.1:p.Asp496= |
| XM_011537902.1:c.1444G= | XP_011536204.1:p.Asp482= |