Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130551G>T , CM000676.2:g.50130551G>T | GRCh38 |
| NC_000014.8:g.50597269G>T , CM000676.1:g.50597269G>T | GRCh37 |
| NC_000014.7:g.49667019G>T | NCBI36 |
| NG_051073.1:g.106143C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3287C>A MANE Select | ENSP00000216373.5:p.Ala1096Asp | |
| ENST00000216373.9:c.3287C>A | ENSP00000216373.5:p.Ala1096Asp | |
| ENST00000543680.5:c.3188C>A | ENSP00000445328.1:p.Ala1063Asp | |
| NM_006939.2:c.3287C>A | NP_008870.2:p.Ala1096Asp | |
| XM_005268021.1:c.3107C>A | XP_005268078.1:p.Ala1036Asp | |
| XM_011537103.1:c.3248C>A | XP_011535405.1:p.Ala1083Asp | |
| NM_006939.3:c.3287C>A | NP_008870.2:p.Ala1096Asp | |
| NM_006939.4:c.3287C>A MANE Select | NP_008870.2:p.Ala1096Asp |