Linked Data
ClinVar Variation Id:
194863
dbSNP Id:
rs146588608
ExAC:
14:77746176 C / T
gnomAD v2:
14-77746176-C-T
gnomAD v3:
14-77279833-C-T
gnomAD v4:
14-77279833-C-T
PubMed:
PMID:17878207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77279833C>T , CM000676.2:g.77279833C>T | GRCh38 |
| NC_000014.8:g.77746176C>T , CM000676.1:g.77746176C>T | GRCh37 |
| NC_000014.7:g.76815929C>T | NCBI36 |
| NG_008897.1:g.46050G>A , LRG_844:g.46050G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.520G>A | ||
| ENST00000556394.2:c.1422G>A | ENSP00000451967.2:p.Ala474= | |
| ENST00000682128.1:c.96G>A | ENSP00000506976.1:p.Ala32= | |
| ENST00000682247.1:c.1881G>A | ENSP00000507213.1:p.Ala627= | |
| ENST00000682382.1:c.2529G>A | ||
| ENST00000682395.1:n.2059G>A | ||
| ENST00000682459.1:n.1584G>A | ||
| ENST00000682467.1:c.1881G>A | ENSP00000508062.1:p.Ala627= | |
| ENST00000682615.1:n.96G>A | ||
| ENST00000682795.1:c.1881G>A | ENSP00000507574.1:p.Ala627= | |
| ENST00000682895.1:n.1597G>A | ||
| ENST00000682955.1:n.1169G>A | ||
| ENST00000682973.1:c.168G>A | ENSP00000508268.1:p.Ala56= | |
| ENST00000683095.1:c.287G>A | ENSP00000508040.1:n.287G>A | |
| ENST00000683188.1:c.1856G>A | ||
| ENST00000683380.1:n.1545G>A | ||
| ENST00000683828.1:c.1590G>A | ||
| ENST00000683907.1:c.96G>A | ENSP00000507754.1:p.Ala32= | |
| ENST00000684172.1:c.257G>A | ENSP00000508391.1:n.257G>A | |
| ENST00000684259.1:n.2695G>A | ||
| ENST00000684538.1:n.307G>A | ||
| ENST00000684549.1:n.1432G>A | ||
| ENST00000261534.9:c.1881G>A MANE Select | ENSP00000261534.4:p.Ala627= | |
| ENST00000261534.8:c.1881G>A | ENSP00000261534.4:p.Ala627= | |
| ENST00000452340.7:n.1904G>A | ||
| ENST00000554767.5:n.2667G>A | ||
| ENST00000555134.1:n.520G>A | ||
| ENST00000555710.1:c.150G>A | ENSP00000451730.1:p.Ala50= | |
| ENST00000556171.1:c.284G>A | ||
| ENST00000556394.1:c.77G>A | ||
| ENST00000602717.5:c.96G>A | ENSP00000487704.1:p.Ala32= | |
| NM_013382.5:c.1881G>A , LRG_844t1:c.1881G>A | NP_037514.2:p.Ala627= | |
| XM_011536675.1:c.1881G>A | XP_011534977.1:p.Ala627= | |
| XM_011536676.1:c.1548G>A | XP_011534978.1:p.Ala516= | |
| XM_011536677.1:c.1422G>A | XP_011534979.1:p.Ala474= | |
| XM_011536678.1:c.1881G>A | XP_011534980.1:p.Ala627= | |
| XM_011536679.1:c.975G>A | XP_011534981.1:p.Ala325= | |
| XR_943416.1:n.2084G>A | ||
| XM_011536675.2:c.1881G>A | XP_011534977.1:p.Ala627= | |
| XM_011536676.2:c.1548G>A | XP_011534978.1:p.Ala516= | |
| XM_011536677.3:c.1422G>A | XP_011534979.1:p.Ala474= | |
| XR_001750279.1:n.2081G>A | ||
| XR_001750282.1:n.2534G>A | ||
| XR_943416.3:n.2082G>A | ||
| NM_013382.6:c.1881G>A | NP_037514.2:p.Ala627= | |
| NM_013382.7:c.1881G>A MANE Select | NP_037514.2:p.Ala627= |