Linked Data
ClinVar Variation Id:
2940460
ClinVar RCV Id:
RCV003799770
dbSNP Id:
rs368529489
ExAC:
14:77745118 G / A
gnomAD v2:
14-77745118-G-A
gnomAD v4:
14-77278775-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278775G>A , CM000676.2:g.77278775G>A | GRCh38 |
| NC_000014.8:g.77745118G>A , CM000676.1:g.77745118G>A | GRCh37 |
| NC_000014.7:g.76814871G>A | NCBI36 |
| NG_008897.1:g.47108C>T , LRG_844:g.47108C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.911C>T | ||
| ENST00000556394.2:c.1527C>T | ENSP00000451967.2:p.Tyr509= | |
| ENST00000682128.1:c.287C>T | ENSP00000506976.1:n.287C>T | |
| ENST00000682247.1:c.1975C>T | ENSP00000507213.1:p.Leu659Phe | |
| ENST00000682395.1:n.2450C>T | ||
| ENST00000682459.1:n.1689C>T | ||
| ENST00000682467.1:c.1892-267C>T | ENSP00000508062.1:n.1892-267C>T | |
| ENST00000682615.1:n.340C>T | ||
| ENST00000682795.1:c.2133C>T | ENSP00000507574.1:p.Tyr711= | |
| ENST00000682895.1:n.1702C>T | ||
| ENST00000682955.1:n.1560C>T | ||
| ENST00000683095.1:c.392C>T | ENSP00000508040.1:n.392C>T | |
| ENST00000683188.1:c.2247C>T | ||
| ENST00000683380.1:n.1650C>T | ||
| ENST00000683907.1:c.251C>T | ENSP00000507754.1:n.251C>T | |
| ENST00000684172.1:c.362C>T | ENSP00000508391.1:n.362C>T | |
| ENST00000684259.1:n.3753C>T | ||
| ENST00000684538.1:n.1365C>T | ||
| ENST00000684549.1:n.1537C>T | ||
| ENST00000261534.9:c.1986C>T MANE Select | ENSP00000261534.4:p.Tyr662= | |
| ENST00000261534.8:c.1986C>T | ENSP00000261534.4:p.Tyr662= | |
| ENST00000452340.7:n.2962C>T | ||
| ENST00000554767.5:n.2772C>T | ||
| ENST00000555710.1:c.347C>T | ENSP00000451730.1:n.347C>T | |
| ENST00000556171.1:c.578C>T | ||
| ENST00000556394.1:c.88-267C>T | ||
| ENST00000556446.1:n.287C>T | ||
| ENST00000602717.5:c.201C>T | ENSP00000487704.1:p.Tyr67= | |
| NM_013382.5:c.1986C>T , LRG_844t1:c.1986C>T | NP_037514.2:p.Tyr662= | |
| XM_011536675.1:c.2175C>T | XP_011534977.1:p.Tyr725= | |
| XM_011536676.1:c.1842C>T | XP_011534978.1:p.Tyr614= | |
| XM_011536677.1:c.1716C>T | XP_011534979.1:p.Tyr572= | |
| XM_011536679.1:c.1269C>T | XP_011534981.1:p.Tyr423= | |
| XR_943416.1:n.2239C>T | ||
| XM_011536675.2:c.2175C>T | XP_011534977.1:p.Tyr725= | |
| XM_011536676.2:c.1842C>T | XP_011534978.1:p.Tyr614= | |
| XM_011536677.3:c.1716C>T | XP_011534979.1:p.Tyr572= | |
| XR_001750279.1:n.2272C>T | ||
| XR_001750282.1:n.2925C>T | ||
| XR_943416.3:n.2237C>T | ||
| NM_013382.6:c.1986C>T | NP_037514.2:p.Tyr662= | |
| NM_013382.7:c.1986C>T MANE Select | NP_037514.2:p.Tyr662= |