Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215052509G>A , CM000664.2:g.215052509G>A | GRCh38 |
| NC_000002.11:g.215917233G>A , CM000664.1:g.215917233G>A | GRCh37 |
| NC_000002.10:g.215625478G>A | NCBI36 |
| NG_007074.1:g.90919C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173076.3:c.485C>T MANE Select | NP_775099.2:p.Ala162Val |
| ENST00000272895.12:c.485C>T MANE Select | ENSP00000272895.7:p.Ala162Val |
| NM_173076.2:c.485C>T | NP_775099.2:p.Ala162Val |
| NR_103740.1:n.705C>T | |
| NR_103740.2:n.903C>T | |
| ENST00000272895.11:c.485C>T | ENSP00000272895.7:p.Ala162Val |
| XM_011510951.1:c.485C>T | XP_011509253.1:p.Ala162Val |
| XM_011510951.2:c.485C>T | XP_011509253.1:p.Ala162Val |
| XM_011510952.1:c.485C>T | XP_011509254.1:p.Ala162Val |