Linked Data
ClinVar Variation Id:
2929171
ClinVar RCV Id:
RCV003781897
dbSNP Id:
rs2140162003
gnomAD v4:
14-77278766-G-A
MyVariant Identifiers:
chr14:g.77745109G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278766G>A , CM000676.2:g.77278766G>A | GRCh38 |
| NC_000014.8:g.77745109G>A , CM000676.1:g.77745109G>A | GRCh37 |
| NC_000014.7:g.76814862G>A | NCBI36 |
| NG_008897.1:g.47117C>T , LRG_844:g.47117C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.920C>T | ||
| ENST00000556394.2:c.1536C>T | ENSP00000451967.2:p.His512= | |
| ENST00000682128.1:c.296C>T | ENSP00000506976.1:n.296C>T | |
| ENST00000682247.1:c.1984C>T | ENSP00000507213.1:p.Leu662= | |
| ENST00000682395.1:n.2459C>T | ||
| ENST00000682459.1:n.1698C>T | ||
| ENST00000682467.1:c.1892-258C>T | ENSP00000508062.1:n.1892-258C>T | |
| ENST00000682615.1:n.349C>T | ||
| ENST00000682795.1:c.2142C>T | ENSP00000507574.1:p.His714= | |
| ENST00000682895.1:n.1711C>T | ||
| ENST00000682955.1:n.1569C>T | ||
| ENST00000683095.1:c.401C>T | ENSP00000508040.1:n.401C>T | |
| ENST00000683188.1:c.2256C>T | ||
| ENST00000683380.1:n.1659C>T | ||
| ENST00000683907.1:c.260C>T | ENSP00000507754.1:n.260C>T | |
| ENST00000684172.1:c.371C>T | ENSP00000508391.1:n.371C>T | |
| ENST00000684259.1:n.3762C>T | ||
| ENST00000684538.1:n.1374C>T | ||
| ENST00000684549.1:n.1546C>T | ||
| ENST00000261534.9:c.1995C>T MANE Select | ENSP00000261534.4:p.His665= | |
| ENST00000261534.8:c.1995C>T | ENSP00000261534.4:p.His665= | |
| ENST00000452340.7:n.2971C>T | ||
| ENST00000554767.5:n.2781C>T | ||
| ENST00000555710.1:c.356C>T | ENSP00000451730.1:n.356C>T | |
| ENST00000556394.1:c.88-258C>T | ||
| ENST00000556446.1:n.296C>T | ||
| ENST00000602717.5:c.210C>T | ENSP00000487704.1:p.His70= | |
| NM_013382.5:c.1995C>T , LRG_844t1:c.1995C>T | NP_037514.2:p.His665= | |
| XM_011536675.1:c.2184C>T | XP_011534977.1:p.His728= | |
| XM_011536676.1:c.1851C>T | XP_011534978.1:p.His617= | |
| XM_011536677.1:c.1725C>T | XP_011534979.1:p.His575= | |
| XM_011536679.1:c.1278C>T | XP_011534981.1:p.His426= | |
| XR_943416.1:n.2248C>T | ||
| XM_011536675.2:c.2184C>T | XP_011534977.1:p.His728= | |
| XM_011536676.2:c.1851C>T | XP_011534978.1:p.His617= | |
| XM_011536677.3:c.1725C>T | XP_011534979.1:p.His575= | |
| XR_001750279.1:n.2281C>T | ||
| XR_001750282.1:n.2934C>T | ||
| XR_943416.3:n.2246C>T | ||
| NM_013382.6:c.1995C>T | NP_037514.2:p.His665= | |
| NM_013382.7:c.1995C>T MANE Select | NP_037514.2:p.His665= |