Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154996997C>T , CM000685.2:g.154996997C>T | GRCh38 |
| NC_000023.10:g.154225272C>T , CM000685.1:g.154225272C>T | GRCh37 |
| NC_000023.9:g.153878466C>T | NCBI36 |
| NG_011403.1:g.30727G>A | |
| NG_011403.2:g.30727G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.364G>A MANE Select | ENSP00000353393.4:p.Val122Ile | |
| ENST00000647125.1:c.*150G>A | ENSP00000496062.1:n.*150G>A | |
| ENST00000360256.8:c.364G>A | ENSP00000353393.4:p.Val122Ile | |
| ENST00000423959.5:c.259G>A | ENSP00000409446.1:p.Val87Ile | |
| ENST00000453950.1:c.346G>A | ENSP00000389153.1:p.Val116Ile | |
| NM_000132.3:c.364G>A | NP_000123.1:p.Val122Ile | |
| XM_011531126.1:c.259G>A | XP_011529428.1:p.Val87Ile | |
| NM_000132.4:c.364G>A MANE Select | NP_000123.1:p.Val122Ile |