Linked Data
dbSNP Id:
rs756898983
ExAC:
5:131819646 C / T
gnomAD v2:
5-131819646-C-T
gnomAD v3:
5-132483954-C-T
gnomAD v4:
5-132483954-C-T
COSMIC:
COSM237571
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132483954C>T , CM000667.2:g.132483954C>T | GRCh38 |
| NC_000005.9:g.131819646C>T , CM000667.1:g.131819646C>T | GRCh37 |
| NC_000005.8:g.131847545C>T | NCBI36 |
| NG_011450.1:g.11820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245414.9:c.975G>A MANE Select | ENSP00000245414.4:p.Pro325= | |
| ENST00000638452.2:c.-169+34265C>T | ENSP00000492349.2:n.-169+34265C>T | |
| ENST00000638504.1:n.206+64014C>T | ||
| ENST00000638568.2:c.-311+34265C>T | ENSP00000491158.2:n.-311+34265C>T | |
| ENST00000639899.1:n.289+34265C>T | ||
| ENST00000640655.2:c.-637-2238C>T | ENSP00000491596.2:n.-637-2238C>T | |
| ENST00000679743.1:c.596G>A | ENSP00000505257.1:n.596G>A | |
| ENST00000679786.1:n.130+2603G>A | ||
| ENST00000679921.1:c.292+2603G>A | ENSP00000505766.1:n.292+2603G>A | |
| ENST00000679945.1:n.130+2603G>A | ||
| ENST00000679964.1:n.50+1713G>A | ||
| ENST00000680139.1:c.789G>A | ENSP00000506148.1:p.Pro263= | |
| ENST00000680380.1:n.136+408G>A | ||
| ENST00000680562.1:c.423G>A | ENSP00000505853.1:p.Pro141= | |
| ENST00000680594.1:n.136+408G>A | ||
| ENST00000680903.1:c.852G>A | ENSP00000505720.1:p.Pro284= | |
| ENST00000681049.1:n.50+1713G>A | ||
| ENST00000681240.1:c.225G>A | ENSP00000506034.1:p.Pro75= | |
| ENST00000681336.1:c.222G>A | ENSP00000505242.1:p.Pro74= | |
| ENST00000681595.1:c.536G>A | ENSP00000506023.1:n.536G>A | |
| ENST00000681634.1:n.136+408G>A | ||
| ENST00000681694.1:c.287G>A | ENSP00000506552.1:n.287G>A | |
| ENST00000681715.1:c.473G>A | ENSP00000506545.1:n.473G>A | |
| ENST00000245414.8:c.975G>A | ENSP00000245414.4:p.Pro325= | |
| ENST00000405885.6:c.975G>A | ENSP00000384406.1:p.Pro325= | |
| ENST00000472045.1:n.4284G>A | ||
| NM_002198.2:c.975G>A | NP_002189.1:p.Pro325= | |
| XM_011543378.1:c.852G>A | XP_011541680.1:p.Pro284= | |
| XM_011543379.1:c.723G>A | XP_011541681.1:p.Pro241= | |
| XR_427711.2:n.1036G>A | ||
| NM_001354924.1:c.852G>A | NP_001341853.1:p.Pro284= | |
| NM_001354925.1:c.789G>A | NP_001341854.1:p.Pro263= | |
| NR_149068.1:n.1036G>A | ||
| XM_011543379.2:c.723G>A | XP_011541681.1:p.Pro241= | |
| NM_002198.3:c.975G>A MANE Select | NP_002189.1:p.Pro325= |