Linked Data
ClinVar Variation Id:
2435205
ClinVar RCV Id:
RCV003130321
dbSNP Id:
rs754291354
ExAC:
14:77745183 C / T
gnomAD v2:
14-77745183-C-T
gnomAD v3:
14-77278840-C-T
gnomAD v4:
14-77278840-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278840C>T , CM000676.2:g.77278840C>T | GRCh38 |
| NC_000014.8:g.77745183C>T , CM000676.1:g.77745183C>T | GRCh37 |
| NC_000014.7:g.76814936C>T | NCBI36 |
| NG_008897.1:g.47043G>A , LRG_844:g.47043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.846G>A | ||
| ENST00000556394.2:c.1462G>A | ENSP00000451967.2:p.Gly488Ser | |
| ENST00000682128.1:c.222G>A | ENSP00000506976.1:n.222G>A | |
| ENST00000682247.1:c.1910G>A | ENSP00000507213.1:p.Arg637Gln | |
| ENST00000682395.1:n.2385G>A | ||
| ENST00000682459.1:n.1624G>A | ||
| ENST00000682467.1:c.1892-332G>A | ENSP00000508062.1:n.1892-332G>A | |
| ENST00000682615.1:n.275G>A | ||
| ENST00000682795.1:c.2068G>A | ENSP00000507574.1:p.Gly690Ser | |
| ENST00000682895.1:n.1637G>A | ||
| ENST00000682955.1:n.1495G>A | ||
| ENST00000683095.1:c.327G>A | ENSP00000508040.1:n.327G>A | |
| ENST00000683188.1:c.2182G>A | ||
| ENST00000683380.1:n.1585G>A | ||
| ENST00000683828.1:c.1630G>A | ||
| ENST00000683907.1:c.186G>A | ENSP00000507754.1:p.Ala62= | |
| ENST00000684172.1:c.297G>A | ENSP00000508391.1:n.297G>A | |
| ENST00000684259.1:n.3688G>A | ||
| ENST00000684538.1:n.1300G>A | ||
| ENST00000684549.1:n.1472G>A | ||
| ENST00000261534.9:c.1921G>A MANE Select | ENSP00000261534.4:p.Gly641Ser | |
| ENST00000261534.8:c.1921G>A | ENSP00000261534.4:p.Gly641Ser | |
| ENST00000452340.7:n.2897G>A | ||
| ENST00000554767.5:n.2707G>A | ||
| ENST00000555134.1:n.846G>A | ||
| ENST00000555710.1:c.282G>A | ENSP00000451730.1:n.282G>A | |
| ENST00000556171.1:c.513G>A | ||
| ENST00000556394.1:c.88-332G>A | ||
| ENST00000556446.1:n.222G>A | ||
| ENST00000602717.5:c.136G>A | ENSP00000487704.1:p.Gly46Ser | |
| NM_013382.5:c.1921G>A , LRG_844t1:c.1921G>A | NP_037514.2:p.Gly641Ser | |
| XM_011536675.1:c.2110G>A | XP_011534977.1:p.Gly704Ser | |
| XM_011536676.1:c.1777G>A | XP_011534978.1:p.Gly593Ser | |
| XM_011536677.1:c.1651G>A | XP_011534979.1:p.Gly551Ser | |
| XM_011536679.1:c.1204G>A | XP_011534981.1:p.Gly402Ser | |
| XR_943416.1:n.2174G>A | ||
| XM_011536675.2:c.2110G>A | XP_011534977.1:p.Gly704Ser | |
| XM_011536676.2:c.1777G>A | XP_011534978.1:p.Gly593Ser | |
| XM_011536677.3:c.1651G>A | XP_011534979.1:p.Gly551Ser | |
| XR_001750279.1:n.2207G>A | ||
| XR_001750282.1:n.2860G>A | ||
| XR_943416.3:n.2172G>A | ||
| NM_013382.6:c.1921G>A | NP_037514.2:p.Gly641Ser | |
| NM_013382.7:c.1921G>A MANE Select | NP_037514.2:p.Gly641Ser |