Linked Data
ClinVar Variation Id:
312230
dbSNP Id:
rs779371056
ExAC:
13:43148587 G / A
gnomAD v2:
13-43148587-G-A
gnomAD v4:
13-42574451-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42574451G>A , CM000675.2:g.42574451G>A | GRCh38 |
| NC_000013.10:g.43148587G>A , CM000675.1:g.43148587G>A | GRCh37 |
| NC_000013.9:g.42046587G>A | NCBI36 |
| NG_008990.1:g.16716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398795.7:c.148G>A MANE Select | ENSP00000381775.3:p.Val50Met | |
| ENST00000239849.8:c.7G>A | ENSP00000239849.7:p.Val3Met | |
| ENST00000358545.6:c.-1+2713G>A | ENSP00000351347.2:n.-1+2713G>A | |
| ENST00000398795.6:c.148G>A | ENSP00000381775.3:p.Val50Met | |
| ENST00000405262.6:c.-1+2713G>A | ENSP00000384042.2:n.-1+2713G>A | |
| ENST00000544862.5:c.-54-18G>A | ENSP00000444913.1:n.-54-18G>A | |
| NM_003701.3:c.148G>A | NP_003692.1:p.Val50Met | |
| NM_033012.3:c.-1+2713G>A | NP_143026.1:n.-1+2713G>A | |
| NM_003701.4:c.148G>A MANE Select | NP_003692.1:p.Val50Met | |
| NM_033012.4:c.-1+2713G>A | NP_143026.1:n.-1+2713G>A |