Linked Data
ClinVar Variation Id:
3223
ClinVar RCV Id:
RCV000003379
dbSNP Id:
rs267606963
ExAC:
14:77745163 C / T
gnomAD v2:
14-77745163-C-T
PubMed:
PMID:17634419
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278820C>T , CM000676.2:g.77278820C>T | GRCh38 |
| NC_000014.8:g.77745163C>T , CM000676.1:g.77745163C>T | GRCh37 |
| NC_000014.7:g.76814916C>T | NCBI36 |
| NG_008897.1:g.47063G>A , LRG_844:g.47063G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555134.2:n.866G>A | ||
| ENST00000556394.2:c.1482G>A | ENSP00000451967.2:p.Trp494Ter | |
| ENST00000682128.1:c.242G>A | ENSP00000506976.1:n.242G>A | |
| ENST00000682247.1:c.1930G>A | ENSP00000507213.1:p.Asp644Asn | |
| ENST00000682395.1:n.2405G>A | ||
| ENST00000682459.1:n.1644G>A | ||
| ENST00000682467.1:c.1892-312G>A | ENSP00000508062.1:n.1892-312G>A | |
| ENST00000682615.1:n.295G>A | ||
| ENST00000682795.1:c.2088G>A | ENSP00000507574.1:p.Trp696Ter | |
| ENST00000682895.1:n.1657G>A | ||
| ENST00000682955.1:n.1515G>A | ||
| ENST00000683095.1:c.347G>A | ENSP00000508040.1:n.347G>A | |
| ENST00000683188.1:c.2202G>A | ||
| ENST00000683380.1:n.1605G>A | ||
| ENST00000683828.1:c.1650G>A | ||
| ENST00000683907.1:c.206G>A | ENSP00000507754.1:p.Gly69Glu | |
| ENST00000684172.1:c.317G>A | ENSP00000508391.1:n.317G>A | |
| ENST00000684259.1:n.3708G>A | ||
| ENST00000684538.1:n.1320G>A | ||
| ENST00000684549.1:n.1492G>A | ||
| ENST00000261534.9:c.1941G>A MANE Select | ENSP00000261534.4:p.Trp647Ter | |
| ENST00000261534.8:c.1941G>A | ENSP00000261534.4:p.Trp647Ter | |
| ENST00000452340.7:n.2917G>A | ||
| ENST00000554767.5:n.2727G>A | ||
| ENST00000555134.1:n.866G>A | ||
| ENST00000555710.1:c.302G>A | ENSP00000451730.1:n.302G>A | |
| ENST00000556171.1:c.533G>A | ||
| ENST00000556394.1:c.88-312G>A | ||
| ENST00000556446.1:n.242G>A | ||
| ENST00000602717.5:c.156G>A | ENSP00000487704.1:p.Trp52Ter | |
| NM_013382.5:c.1941G>A , LRG_844t1:c.1941G>A | NP_037514.2:p.Trp647Ter | |
| XM_011536675.1:c.2130G>A | XP_011534977.1:p.Trp710Ter | |
| XM_011536676.1:c.1797G>A | XP_011534978.1:p.Trp599Ter | |
| XM_011536677.1:c.1671G>A | XP_011534979.1:p.Trp557Ter | |
| XM_011536679.1:c.1224G>A | XP_011534981.1:p.Trp408Ter | |
| XR_943416.1:n.2194G>A | ||
| XM_011536675.2:c.2130G>A | XP_011534977.1:p.Trp710Ter | |
| XM_011536676.2:c.1797G>A | XP_011534978.1:p.Trp599Ter | |
| XM_011536677.3:c.1671G>A | XP_011534979.1:p.Trp557Ter | |
| XR_001750279.1:n.2227G>A | ||
| XR_001750282.1:n.2880G>A | ||
| XR_943416.3:n.2192G>A | ||
| NM_013382.6:c.1941G>A | NP_037514.2:p.Trp647Ter | |
| NM_013382.7:c.1941G>A MANE Select | NP_037514.2:p.Trp647Ter |