Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120438435A>G , CM000674.2:g.120438435A>G | GRCh38 |
| NC_000012.11:g.120876238A>G , CM000674.1:g.120876238A>G | GRCh37 |
| NC_000012.10:g.119360621A>G | NCBI36 |
| NG_034299.1:g.5346A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004373.4:c.160A>G MANE Select | NP_004364.2:p.Met54Val |
| ENST00000229379.3:c.160A>G MANE Select | ENSP00000229379.2:p.Met54Val |
| NM_004373.3:c.160A>G | NP_004364.2:p.Met54Val |
| ENST00000229379.2:c.160A>G | ENSP00000229379.2:p.Met54Val |
| ENST00000550009.1:n.197A>G | |
| ENST00000551806.1:c.89A>G |