Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45344167T>C , CM000684.2:g.45344167T>C | GRCh38 |
| NC_000022.10:g.45740048T>C , CM000684.1:g.45740048T>C | GRCh37 |
| NC_000022.9:g.44118712T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357450.9:c.*389A>G MANE Select | ENSP00000350036.4:n.*389A>G | |
| ENST00000357450.8:c.4097A>G | ENSP00000350036.4:n.4097A>G | |
| NM_001291501.1:c.*389A>G | NP_001278430.1:n.*389A>G | |
| NM_148674.4:c.*389A>G | NP_683515.4:n.*389A>G | |
| XM_011530144.1:c.*389A>G | XP_011528446.1:n.*389A>G | |
| XR_244368.3:n.4086A>G | ||
| XM_011530144.2:c.*389A>G | XP_011528446.1:n.*389A>G | |
| XR_244368.4:n.4131A>G | ||
| NM_148674.5:c.*389A>G MANE Select | NP_683515.4:n.*389A>G | |
| NM_001291501.2:c.*389A>G | NP_001278430.1:n.*389A>G |