Linked Data
ClinVar Variation Id:
1082504
ClinVar RCV Id:
RCV001398835
dbSNP Id:
rs143329994
gnomAD v4:
14-77278769-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278769G>A , CM000676.2:g.77278769G>A | GRCh38 |
| NC_000014.8:g.77745112G>A , CM000676.1:g.77745112G>A | GRCh37 |
| NC_000014.7:g.76814865G>A | NCBI36 |
| NG_008897.1:g.47114C>T , LRG_844:g.47114C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.917C>T | ||
| ENST00000556394.2:c.1533C>T | ENSP00000451967.2:p.His511= | |
| ENST00000682128.1:c.293C>T | ENSP00000506976.1:n.293C>T | |
| ENST00000682247.1:c.1981C>T | ENSP00000507213.1:p.Pro661Ser | |
| ENST00000682395.1:n.2456C>T | ||
| ENST00000682459.1:n.1695C>T | ||
| ENST00000682467.1:c.1892-261C>T | ENSP00000508062.1:n.1892-261C>T | |
| ENST00000682615.1:n.346C>T | ||
| ENST00000682795.1:c.2139C>T | ENSP00000507574.1:p.His713= | |
| ENST00000682895.1:n.1708C>T | ||
| ENST00000682955.1:n.1566C>T | ||
| ENST00000683095.1:c.398C>T | ENSP00000508040.1:n.398C>T | |
| ENST00000683188.1:c.2253C>T | ||
| ENST00000683380.1:n.1656C>T | ||
| ENST00000683907.1:c.257C>T | ENSP00000507754.1:n.257C>T | |
| ENST00000684172.1:c.368C>T | ENSP00000508391.1:n.368C>T | |
| ENST00000684259.1:n.3759C>T | ||
| ENST00000684538.1:n.1371C>T | ||
| ENST00000684549.1:n.1543C>T | ||
| ENST00000261534.9:c.1992C>T MANE Select | ENSP00000261534.4:p.His664= | |
| ENST00000261534.8:c.1992C>T | ENSP00000261534.4:p.His664= | |
| ENST00000452340.7:n.2968C>T | ||
| ENST00000554767.5:n.2778C>T | ||
| ENST00000555710.1:c.353C>T | ENSP00000451730.1:n.353C>T | |
| ENST00000556394.1:c.88-261C>T | ||
| ENST00000556446.1:n.293C>T | ||
| ENST00000602717.5:c.207C>T | ENSP00000487704.1:p.His69= | |
| NM_013382.5:c.1992C>T , LRG_844t1:c.1992C>T | NP_037514.2:p.His664= | |
| XM_011536675.1:c.2181C>T | XP_011534977.1:p.His727= | |
| XM_011536676.1:c.1848C>T | XP_011534978.1:p.His616= | |
| XM_011536677.1:c.1722C>T | XP_011534979.1:p.His574= | |
| XM_011536679.1:c.1275C>T | XP_011534981.1:p.His425= | |
| XR_943416.1:n.2245C>T | ||
| XM_011536675.2:c.2181C>T | XP_011534977.1:p.His727= | |
| XM_011536676.2:c.1848C>T | XP_011534978.1:p.His616= | |
| XM_011536677.3:c.1722C>T | XP_011534979.1:p.His574= | |
| XR_001750279.1:n.2278C>T | ||
| XR_001750282.1:n.2931C>T | ||
| XR_943416.3:n.2243C>T | ||
| NM_013382.6:c.1992C>T | NP_037514.2:p.His664= | |
| NM_013382.7:c.1992C>T MANE Select | NP_037514.2:p.His664= |