gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38426693C>A , CM000684.2:g.38426693C>A | GRCh38 |
| NC_000022.10:g.38822698C>A , CM000684.1:g.38822698C>A | GRCh37 |
| NC_000022.9:g.37152644C>A | NCBI36 |
| NG_050625.1:g.33507G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303592.3:c.*102G>T MANE Select | ENSP00000306497.3:n.*102G>T | |
| NM_004981.1:c.*102G>T | NP_004972.1:n.*102G>T | |
| NM_152868.2:c.*102G>T | NP_690607.1:n.*102G>T | |
| XR_938252.1:n.309+1721C>A | ||
| XR_938252.2:n.313+1721C>A | ||
| NM_152868.3:c.*102G>T MANE Select | NP_690607.1:n.*102G>T | |
| NM_004981.2:c.*102G>T | NP_004972.1:n.*102G>T |