Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153770203G>A , CM000685.2:g.153770203G>A | GRCh38 |
| NC_000023.10:g.153035658G>A , CM000685.1:g.153035658G>A | GRCh37 |
| NC_000023.9:g.152688852G>A | NCBI36 |
| NG_013255.1:g.11008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361971.10:c.1741G>A MANE Select | ENSP00000355378.5:p.Val581Ile | |
| ENST00000361971.9:c.1741G>A | ENSP00000355378.5:p.Val581Ile | |
| ENST00000538966.5:c.1810G>A | ENSP00000442736.1:p.Val604Ile | |
| NM_001163257.1:c.1810G>A | NP_001156729.1:p.Val604Ile | |
| NM_005393.2:c.1741G>A | NP_005384.2:p.Val581Ile | |
| NM_005393.3:c.1741G>A MANE Select | NP_005384.2:p.Val581Ile | |
| NM_001163257.2:c.1810G>A | NP_001156729.1:p.Val604Ile |