Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154992948C>T , CM000685.2:g.154992948C>T | GRCh38 |
| NC_000023.10:g.154221223C>T , CM000685.1:g.154221223C>T | GRCh37 |
| NC_000023.9:g.153874417C>T | NCBI36 |
| NG_011403.1:g.34776G>A | |
| NG_011403.2:g.34776G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.589G>A MANE Select | ENSP00000353393.4:p.Val197Ile | |
| ENST00000647125.1:c.*375G>A | ENSP00000496062.1:n.*375G>A | |
| ENST00000360256.8:c.589G>A | ENSP00000353393.4:p.Val197Ile | |
| ENST00000423959.5:c.484G>A | ENSP00000409446.1:p.Val162Ile | |
| NM_000132.3:c.589G>A | NP_000123.1:p.Val197Ile | |
| XM_011531126.1:c.484G>A | XP_011529428.1:p.Val162Ile | |
| NM_000132.4:c.589G>A MANE Select | NP_000123.1:p.Val197Ile |