Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887118A>C , CM000681.2:g.12887118A>C | GRCh38 |
| NC_000019.9:g.12997932A>C , CM000681.1:g.12997932A>C | GRCh37 |
| NC_000019.8:g.12858932A>C | NCBI36 |
| NG_009292.1:g.959A>C | |
| NG_013087.1:g.5086T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.23T>G MANE Select | ENSP00000264834.3:p.Leu8Trp | |
| ENST00000264834.4:c.23T>G | ENSP00000264834.3:p.Leu8Trp | |
| NM_006563.3:c.23T>G | NP_006554.1:p.Leu8Trp | |
| XM_011527642.1:c.-181T>G | XP_011525944.1:n.-181T>G | |
| NM_006563.4:c.23T>G | NP_006554.1:p.Leu8Trp | |
| XM_011527642.2:c.-181T>G | XP_011525944.1:n.-181T>G | |
| NM_006563.5:c.23T>G MANE Select | NP_006554.1:p.Leu8Trp |