Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214640933A>C , CM000663.2:g.214640933A>C | GRCh38 |
| NC_000001.10:g.214814276A>C , CM000663.1:g.214814276A>C | GRCh37 |
| NC_000001.9:g.212880899A>C | NCBI36 |
| NG_046787.1:g.42755A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706765.1:c.2595A>C | ENSP00000516538.1:p.Glu865Asp | |
| ENST00000366955.8:c.2595A>C MANE Select | ENSP00000355922.3:p.Glu865Asp | |
| ENST00000366955.7:c.2595A>C | ENSP00000355922.3:p.Glu865Asp | |
| NM_016343.3:c.2595A>C | NP_057427.3:p.Glu865Asp | |
| XM_011509082.1:c.2595A>C | XP_011507384.1:p.Glu865Asp | |
| XM_011509083.1:c.1530A>C | XP_011507385.1:p.Glu510Asp | |
| XM_011509082.3:c.2595A>C | XP_011507384.1:p.Glu865Asp | |
| XM_017000086.2:c.2595A>C | XP_016855575.1:p.Glu865Asp | |
| NM_016343.4:c.2595A>C MANE Select | NP_057427.3:p.Glu865Asp |