Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969394G>T , CM000685.2:g.154969394G>T | GRCh38 |
| NC_000023.10:g.154197669G>T , CM000685.1:g.154197669G>T | GRCh37 |
| NC_000023.9:g.153850863G>T | NCBI36 |
| NG_011403.1:g.58330C>A | |
| NG_011403.2:g.58330C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.946C>A MANE Select | ENSP00000353393.4:p.Gln316Lys | |
| ENST00000647125.1:c.*822C>A | ENSP00000496062.1:n.*822C>A | |
| ENST00000360256.8:c.946C>A | ENSP00000353393.4:p.Gln316Lys | |
| NM_000132.3:c.946C>A | NP_000123.1:p.Gln316Lys | |
| XM_011531126.1:c.841C>A | XP_011529428.1:p.Gln281Lys | |
| NM_000132.4:c.946C>A MANE Select | NP_000123.1:p.Gln316Lys |