Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73442368T>C , CM000666.2:g.73442368T>C | GRCh38 |
| NC_000004.11:g.74308085T>C , CM000666.1:g.74308085T>C | GRCh37 |
| NC_000004.10:g.74526949T>C | NCBI36 |
| NG_023028.1:g.11153T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395792.7:c.555T>C MANE Select | ENSP00000379138.2:p.Tyr185= | |
| ENST00000226359.2:c.555T>C | ENSP00000226359.2:p.Tyr185= | |
| ENST00000395792.6:c.555T>C | ENSP00000379138.2:p.Tyr185= | |
| NM_001134.2:c.555T>C | NP_001125.1:p.Tyr185= | |
| XM_011531704.1:c.552T>C | XP_011530006.1:p.Tyr184= | |
| NM_001354717.1:c.81T>C | NP_001341646.1:p.Tyr27= | |
| NM_001134.3:c.555T>C MANE Select | NP_001125.1:p.Tyr185= | |
| NM_001354717.2:c.81T>C | NP_001341646.2:p.Tyr27= |