Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204159299T>G , CM000663.2:g.204159299T>G | GRCh38 |
| NC_000001.10:g.204128427T>G , CM000663.1:g.204128427T>G | GRCh37 |
| NC_000001.9:g.202395050T>G | NCBI36 |
| NG_012122.1:g.12039A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.689+100A>C MANE Select | ENSP00000272190.8:n.689+100A>C | |
| ENST00000638118.1:c.575+100A>C | ENSP00000490307.1:n.575+100A>C | |
| ENST00000272190.8:c.689+100A>C | ENSP00000272190.8:n.689+100A>C | |
| NM_000537.3:c.689+100A>C | NP_000528.1:n.689+100A>C | |
| NM_000537.4:c.689+100A>C MANE Select | NP_000528.1:n.689+100A>C |