Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45344157A>G , CM000684.2:g.45344157A>G | GRCh38 |
| NC_000022.10:g.45740038A>G , CM000684.1:g.45740038A>G | GRCh37 |
| NC_000022.9:g.44118702A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357450.9:c.*399T>C MANE Select | ENSP00000350036.4:n.*399T>C | |
| ENST00000357450.8:c.4107T>C | ENSP00000350036.4:n.4107T>C | |
| NM_001291501.1:c.*399T>C | NP_001278430.1:n.*399T>C | |
| NM_148674.4:c.*399T>C | NP_683515.4:n.*399T>C | |
| XM_011530144.1:c.*399T>C | XP_011528446.1:n.*399T>C | |
| XR_244368.3:n.4096T>C | ||
| XM_011530144.2:c.*399T>C | XP_011528446.1:n.*399T>C | |
| XR_244368.4:n.4141T>C | ||
| NM_148674.5:c.*399T>C MANE Select | NP_683515.4:n.*399T>C | |
| NM_001291501.2:c.*399T>C | NP_001278430.1:n.*399T>C |