Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130600C>T , CM000676.2:g.50130600C>T | GRCh38 |
| NC_000014.8:g.50597318C>T , CM000676.1:g.50597318C>T | GRCh37 |
| NC_000014.7:g.49667068C>T | NCBI36 |
| NG_051073.1:g.106094G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3238G>A MANE Select | ENSP00000216373.5:p.Val1080Met | |
| ENST00000216373.9:c.3238G>A | ENSP00000216373.5:p.Val1080Met | |
| ENST00000543680.5:c.3139G>A | ENSP00000445328.1:p.Val1047Met | |
| NM_006939.2:c.3238G>A | NP_008870.2:p.Val1080Met | |
| XM_005268021.1:c.3058G>A | XP_005268078.1:p.Val1020Met | |
| XM_011537103.1:c.3199G>A | XP_011535405.1:p.Val1067Met | |
| NM_006939.3:c.3238G>A | NP_008870.2:p.Val1080Met | |
| NM_006939.4:c.3238G>A MANE Select | NP_008870.2:p.Val1080Met |