Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130593G>A , CM000676.2:g.50130593G>A | GRCh38 |
| NC_000014.8:g.50597311G>A , CM000676.1:g.50597311G>A | GRCh37 |
| NC_000014.7:g.49667061G>A | NCBI36 |
| NG_051073.1:g.106101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3245C>T MANE Select | ENSP00000216373.5:p.Ala1082Val | |
| ENST00000216373.9:c.3245C>T | ENSP00000216373.5:p.Ala1082Val | |
| ENST00000543680.5:c.3146C>T | ENSP00000445328.1:p.Ala1049Val | |
| NM_006939.2:c.3245C>T | NP_008870.2:p.Ala1082Val | |
| XM_005268021.1:c.3065C>T | XP_005268078.1:p.Ala1022Val | |
| XM_011537103.1:c.3206C>T | XP_011535405.1:p.Ala1069Val | |
| NM_006939.3:c.3245C>T | NP_008870.2:p.Ala1082Val | |
| NM_006939.4:c.3245C>T MANE Select | NP_008870.2:p.Ala1082Val |