Linked Data
dbSNP Id:
rs749726874
ExAC:
5:131819651 C / A
gnomAD v2:
5-131819651-C-A
gnomAD v4:
5-132483959-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132483959C>A , CM000667.2:g.132483959C>A | GRCh38 |
| NC_000005.9:g.131819651C>A , CM000667.1:g.131819651C>A | GRCh37 |
| NC_000005.8:g.131847550C>A | NCBI36 |
| NG_011450.1:g.11815G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245414.9:c.970G>T MANE Select | ENSP00000245414.4:p.Ala324Ser | |
| ENST00000638452.2:c.-169+34270C>A | ENSP00000492349.2:n.-169+34270C>A | |
| ENST00000638504.1:n.206+64019C>A | ||
| ENST00000638568.2:c.-311+34270C>A | ENSP00000491158.2:n.-311+34270C>A | |
| ENST00000639899.1:n.289+34270C>A | ||
| ENST00000640655.2:c.-637-2233C>A | ENSP00000491596.2:n.-637-2233C>A | |
| ENST00000679743.1:c.591G>T | ENSP00000505257.1:n.591G>T | |
| ENST00000679786.1:n.130+2598G>T | ||
| ENST00000679921.1:c.292+2598G>T | ENSP00000505766.1:n.292+2598G>T | |
| ENST00000679945.1:n.130+2598G>T | ||
| ENST00000679964.1:n.50+1708G>T | ||
| ENST00000680139.1:c.784G>T | ENSP00000506148.1:p.Ala262Ser | |
| ENST00000680380.1:n.136+403G>T | ||
| ENST00000680562.1:c.418G>T | ENSP00000505853.1:p.Ala140Ser | |
| ENST00000680594.1:n.136+403G>T | ||
| ENST00000680903.1:c.847G>T | ENSP00000505720.1:p.Ala283Ser | |
| ENST00000681049.1:n.50+1708G>T | ||
| ENST00000681240.1:c.220G>T | ENSP00000506034.1:p.Ala74Ser | |
| ENST00000681336.1:c.217G>T | ENSP00000505242.1:p.Ala73Ser | |
| ENST00000681595.1:c.531G>T | ENSP00000506023.1:n.531G>T | |
| ENST00000681634.1:n.136+403G>T | ||
| ENST00000681694.1:c.282G>T | ENSP00000506552.1:n.282G>T | |
| ENST00000681715.1:c.468G>T | ENSP00000506545.1:n.468G>T | |
| ENST00000245414.8:c.970G>T | ENSP00000245414.4:p.Ala324Ser | |
| ENST00000405885.6:c.970G>T | ENSP00000384406.1:p.Ala324Ser | |
| ENST00000472045.1:n.4279G>T | ||
| NM_002198.2:c.970G>T | NP_002189.1:p.Ala324Ser | |
| XM_011543378.1:c.847G>T | XP_011541680.1:p.Ala283Ser | |
| XM_011543379.1:c.718G>T | XP_011541681.1:p.Ala240Ser | |
| XR_427711.2:n.1031G>T | ||
| NM_001354924.1:c.847G>T | NP_001341853.1:p.Ala283Ser | |
| NM_001354925.1:c.784G>T | NP_001341854.1:p.Ala262Ser | |
| NR_149068.1:n.1031G>T | ||
| XM_011543379.2:c.718G>T | XP_011541681.1:p.Ala240Ser | |
| NM_002198.3:c.970G>T MANE Select | NP_002189.1:p.Ala324Ser |