Linked Data
ClinVar Variation Id:
194965
dbSNP Id:
rs142299878
ExAC:
14:77745201 C / T
gnomAD v2:
14-77745201-C-T
gnomAD v3:
14-77278858-C-T
gnomAD v4:
14-77278858-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278858C>T , CM000676.2:g.77278858C>T | GRCh38 |
| NC_000014.8:g.77745201C>T , CM000676.1:g.77745201C>T | GRCh37 |
| NC_000014.7:g.76814954C>T | NCBI36 |
| NG_008897.1:g.47025G>A , LRG_844:g.47025G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.828G>A | ||
| ENST00000556394.2:c.1444G>A | ENSP00000451967.2:p.Val482Ile | |
| ENST00000682128.1:c.204G>A | ENSP00000506976.1:n.204G>A | |
| ENST00000682247.1:c.1892G>A | ENSP00000507213.1:p.Gly631Asp | |
| ENST00000682395.1:n.2367G>A | ||
| ENST00000682459.1:n.1606G>A | ||
| ENST00000682467.1:c.1892-350G>A | ENSP00000508062.1:n.1892-350G>A | |
| ENST00000682615.1:n.257G>A | ||
| ENST00000682795.1:c.2050G>A | ENSP00000507574.1:p.Val684Ile | |
| ENST00000682895.1:n.1619G>A | ||
| ENST00000682955.1:n.1477G>A | ||
| ENST00000683095.1:c.309G>A | ENSP00000508040.1:n.309G>A | |
| ENST00000683188.1:c.2164G>A | ||
| ENST00000683380.1:n.1567G>A | ||
| ENST00000683828.1:c.1612G>A | ||
| ENST00000683907.1:c.168G>A | ENSP00000507754.1:p.Arg56= | |
| ENST00000684172.1:c.279G>A | ENSP00000508391.1:n.279G>A | |
| ENST00000684259.1:n.3670G>A | ||
| ENST00000684538.1:n.1282G>A | ||
| ENST00000684549.1:n.1454G>A | ||
| ENST00000261534.9:c.1903G>A MANE Select | ENSP00000261534.4:p.Val635Ile | |
| ENST00000261534.8:c.1903G>A | ENSP00000261534.4:p.Val635Ile | |
| ENST00000452340.7:n.2879G>A | ||
| ENST00000554767.5:n.2689G>A | ||
| ENST00000555134.1:n.828G>A | ||
| ENST00000555710.1:c.264G>A | ENSP00000451730.1:n.264G>A | |
| ENST00000556171.1:c.495G>A | ||
| ENST00000556394.1:c.88-350G>A | ||
| ENST00000556446.1:n.204G>A | ||
| ENST00000602717.5:c.118G>A | ENSP00000487704.1:p.Val40Ile | |
| NM_013382.5:c.1903G>A , LRG_844t1:c.1903G>A | NP_037514.2:p.Val635Ile | |
| XM_011536675.1:c.2092G>A | XP_011534977.1:p.Val698Ile | |
| XM_011536676.1:c.1759G>A | XP_011534978.1:p.Val587Ile | |
| XM_011536677.1:c.1633G>A | XP_011534979.1:p.Val545Ile | |
| XM_011536679.1:c.1186G>A | XP_011534981.1:p.Val396Ile | |
| XR_943416.1:n.2156G>A | ||
| XM_011536675.2:c.2092G>A | XP_011534977.1:p.Val698Ile | |
| XM_011536676.2:c.1759G>A | XP_011534978.1:p.Val587Ile | |
| XM_011536677.3:c.1633G>A | XP_011534979.1:p.Val545Ile | |
| XR_001750279.1:n.2189G>A | ||
| XR_001750282.1:n.2842G>A | ||
| XR_943416.3:n.2154G>A | ||
| NM_013382.6:c.1903G>A | NP_037514.2:p.Val635Ile | |
| NM_013382.7:c.1903G>A MANE Select | NP_037514.2:p.Val635Ile |