Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204160557T>C , CM000663.2:g.204160557T>C | GRCh38 |
| NC_000001.10:g.204129685T>C , CM000663.1:g.204129685T>C | GRCh37 |
| NC_000001.9:g.202396308T>C | NCBI36 |
| NG_012122.1:g.10781A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.492+3A>G MANE Select | ENSP00000272190.8:n.492+3A>G | |
| ENST00000638118.1:c.378+3A>G | ENSP00000490307.1:n.378+3A>G | |
| ENST00000272190.8:c.492+3A>G | ENSP00000272190.8:n.492+3A>G | |
| NM_000537.3:c.492+3A>G | NP_000528.1:n.492+3A>G | |
| NM_000537.4:c.492+3A>G MANE Select | NP_000528.1:n.492+3A>G |