Linked Data
ClinVar Variation Id:
2946996
ClinVar RCV Id:
RCV003801186
MyVariant Identifiers:
chr14:g.77745178C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278835C>T , CM000676.2:g.77278835C>T | GRCh38 |
| NC_000014.8:g.77745178C>T , CM000676.1:g.77745178C>T | GRCh37 |
| NC_000014.7:g.76814931C>T | NCBI36 |
| NG_008897.1:g.47048G>A , LRG_844:g.47048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.851G>A | ||
| ENST00000556394.2:c.1467G>A | ENSP00000451967.2:p.Gln489= | |
| ENST00000682128.1:c.227G>A | ENSP00000506976.1:n.227G>A | |
| ENST00000682247.1:c.1915G>A | ENSP00000507213.1:p.Gly639Ser | |
| ENST00000682395.1:n.2390G>A | ||
| ENST00000682459.1:n.1629G>A | ||
| ENST00000682467.1:c.1892-327G>A | ENSP00000508062.1:n.1892-327G>A | |
| ENST00000682615.1:n.280G>A | ||
| ENST00000682795.1:c.2073G>A | ENSP00000507574.1:p.Gln691= | |
| ENST00000682895.1:n.1642G>A | ||
| ENST00000682955.1:n.1500G>A | ||
| ENST00000683095.1:c.332G>A | ENSP00000508040.1:n.332G>A | |
| ENST00000683188.1:c.2187G>A | ||
| ENST00000683380.1:n.1590G>A | ||
| ENST00000683828.1:c.1635G>A | ||
| ENST00000683907.1:c.191G>A | ENSP00000507754.1:p.Arg64Lys | |
| ENST00000684172.1:c.302G>A | ENSP00000508391.1:n.302G>A | |
| ENST00000684259.1:n.3693G>A | ||
| ENST00000684538.1:n.1305G>A | ||
| ENST00000684549.1:n.1477G>A | ||
| ENST00000261534.9:c.1926G>A MANE Select | ENSP00000261534.4:p.Gln642= | |
| ENST00000261534.8:c.1926G>A | ENSP00000261534.4:p.Gln642= | |
| ENST00000452340.7:n.2902G>A | ||
| ENST00000554767.5:n.2712G>A | ||
| ENST00000555134.1:n.851G>A | ||
| ENST00000555710.1:c.287G>A | ENSP00000451730.1:n.287G>A | |
| ENST00000556171.1:c.518G>A | ||
| ENST00000556394.1:c.88-327G>A | ||
| ENST00000556446.1:n.227G>A | ||
| ENST00000602717.5:c.141G>A | ENSP00000487704.1:p.Gln47= | |
| NM_013382.5:c.1926G>A , LRG_844t1:c.1926G>A | NP_037514.2:p.Gln642= | |
| XM_011536675.1:c.2115G>A | XP_011534977.1:p.Gln705= | |
| XM_011536676.1:c.1782G>A | XP_011534978.1:p.Gln594= | |
| XM_011536677.1:c.1656G>A | XP_011534979.1:p.Gln552= | |
| XM_011536679.1:c.1209G>A | XP_011534981.1:p.Gln403= | |
| XR_943416.1:n.2179G>A | ||
| XM_011536675.2:c.2115G>A | XP_011534977.1:p.Gln705= | |
| XM_011536676.2:c.1782G>A | XP_011534978.1:p.Gln594= | |
| XM_011536677.3:c.1656G>A | XP_011534979.1:p.Gln552= | |
| XR_001750279.1:n.2212G>A | ||
| XR_001750282.1:n.2865G>A | ||
| XR_943416.3:n.2177G>A | ||
| NM_013382.6:c.1926G>A | NP_037514.2:p.Gln642= | |
| NM_013382.7:c.1926G>A MANE Select | NP_037514.2:p.Gln642= |