Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673913G= , CM000671.2:g.136673913G= | GRCh38 |
| NC_000009.11:g.139568365G= , CM000671.1:g.139568365G= | GRCh37 |
| NC_000009.10:g.138688186G= | NCBI36 |
| NG_008090.1:g.18547C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006412.4:c.676C= MANE Select | NP_006403.2:p.Gln226= |
| ENST00000371696.7:c.676C= MANE Select | ENSP00000360761.2:p.Gln226= |
| NM_001012727.1:c.580C= | NP_001012745.1:p.Gln194= |
| NM_001012727.2:c.580C= | NP_001012745.1:p.Gln194= |
| NM_006412.3:c.676C= | NP_006403.2:p.Gln226= |
| ENST00000371694.7:c.580C= | ENSP00000360759.3:p.Gln194= |
| ENST00000371696.6:c.676C= | ENSP00000360761.2:p.Gln226= |
| ENST00000472820.1:n.604C= | |
| ENST00000538402.1:c.676C= | ENSP00000438919.1:p.Gln226= |