Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214630596C>G , CM000663.2:g.214630596C>G | GRCh38 |
| NC_000001.10:g.214803939C>G , CM000663.1:g.214803939C>G | GRCh37 |
| NC_000001.9:g.212870562C>G | NCBI36 |
| NG_046787.1:g.32418C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706765.1:c.1257C>G | ENSP00000516538.1:p.Ala419= | |
| ENST00000366955.8:c.1257C>G MANE Select | ENSP00000355922.3:p.Ala419= | |
| ENST00000366955.7:c.1257C>G | ENSP00000355922.3:p.Ala419= | |
| NM_016343.3:c.1257C>G | NP_057427.3:p.Ala419= | |
| XM_011509082.1:c.1257C>G | XP_011507384.1:p.Ala419= | |
| XM_011509083.1:c.192C>G | XP_011507385.1:p.Ala64= | |
| XM_011509082.3:c.1257C>G | XP_011507384.1:p.Ala419= | |
| XM_017000086.2:c.1257C>G | XP_016855575.1:p.Ala419= | |
| NM_016343.4:c.1257C>G MANE Select | NP_057427.3:p.Ala419= |