Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45344215C>T , CM000684.2:g.45344215C>T | GRCh38 |
| NC_000022.10:g.45740096C>T , CM000684.1:g.45740096C>T | GRCh37 |
| NC_000022.9:g.44118760C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_148674.5:c.*341G>A MANE Select | NP_683515.4:n.*341G>A |
| ENST00000357450.9:c.*341G>A MANE Select | ENSP00000350036.4:n.*341G>A |
| NM_001291501.1:c.*341G>A | NP_001278430.1:n.*341G>A |
| NM_001291501.2:c.*341G>A | NP_001278430.1:n.*341G>A |
| NM_148674.4:c.*341G>A | NP_683515.4:n.*341G>A |
| ENST00000357450.8:c.4049G>A | ENSP00000350036.4:n.4049G>A |
| XM_011530144.1:c.*341G>A | XP_011528446.1:n.*341G>A |
| XM_011530144.2:c.*341G>A | XP_011528446.1:n.*341G>A |
| XR_244368.3:n.4038G>A | |
| XR_244368.4:n.4083G>A |