Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98391849A>C , CM000669.2:g.98391849A>C | GRCh38 |
| NC_000007.13:g.98021161A>C , CM000669.1:g.98021161A>C | GRCh37 |
| NC_000007.12:g.97859097A>C | NCBI36 |
| NG_013090.1:g.14267T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005260.9:c.51+8953T>G MANE Select | ENSP00000005260.8:n.51+8953T>G | |
| ENST00000005260.8:c.51+8953T>G | ENSP00000005260.8:n.51+8953T>G | |
| ENST00000462558.5:n.267+8953T>G | ||
| ENST00000479789.1:n.357+8132T>G | ||
| NM_018842.4:c.51+8953T>G | NP_061330.2:n.51+8953T>G | |
| NM_018842.5:c.51+8953T>G MANE Select | NP_061330.2:n.51+8953T>G |