Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739602T>C , CM000670.2:g.86739602T>C | GRCh38 |
| NC_000008.10:g.87751830T>C , CM000670.1:g.87751830T>C | GRCh37 |
| NC_000008.9:g.87820946T>C | NCBI36 |
| NG_016980.1:g.9074A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.211+53A>G MANE Select | ENSP00000316605.5:n.211+53A>G | |
| ENST00000681746.1:c.211+53A>G | ENSP00000505959.1:n.211+53A>G | |
| ENST00000320005.5:c.211+53A>G | ENSP00000316605.5:n.211+53A>G | |
| ENST00000519777.1:n.193+53A>G | ||
| NM_019098.4:c.211+53A>G | NP_061971.3:n.211+53A>G | |
| NM_019098.5:c.211+53A>G MANE Select | NP_061971.3:n.211+53A>G |