Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59831732C>T , CM000673.2:g.59831732C>T | GRCh38 |
| NC_000011.9:g.59599205C>T , CM000673.1:g.59599205C>T | GRCh37 |
| NC_000011.8:g.59355781C>T | NCBI36 |
| NG_008120.1:g.18770G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257248.3:c.1138G>A MANE Select | ENSP00000257248.2:p.Val380Ile | |
| ENST00000257248.2:c.1138G>A | ENSP00000257248.2:p.Val380Ile | |
| ENST00000525058.5:c.*1105G>A | ENSP00000433196.1:n.*1105G>A | |
| ENST00000533067.1:n.185G>A | ||
| NM_005142.2:c.1138G>A | NP_005133.2:p.Val380Ile | |
| XM_011544939.1:c.1096G>A | XP_011543241.1:p.Val366Ile | |
| XM_011544939.3:c.1096G>A | XP_011543241.1:p.Val366Ile | |
| NM_005142.3:c.1138G>A MANE Select | NP_005133.2:p.Val380Ile |