Linked Data
ClinVar Variation Id:
1703704
ClinVar RCV Id:
RCV002280793
dbSNP Id:
rs765061014
ExAC:
14:77744803 G / A
gnomAD v2:
14-77744803-G-A
gnomAD v3:
14-77278460-G-A
gnomAD v4:
14-77278460-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278460G>A , CM000676.2:g.77278460G>A | GRCh38 |
| NC_000014.8:g.77744803G>A , CM000676.1:g.77744803G>A | GRCh37 |
| NC_000014.7:g.76814556G>A | NCBI36 |
| NG_008897.1:g.47423C>T , LRG_844:g.47423C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.1006C>T | ||
| ENST00000556394.2:c.1622C>T | ENSP00000451967.2:p.Ser541Leu | |
| ENST00000682247.1:c.2070C>T | ENSP00000507213.1:p.Leu690= | |
| ENST00000682395.1:n.2545C>T | ||
| ENST00000682459.1:n.1784C>T | ||
| ENST00000682467.1:c.1940C>T | ENSP00000508062.1:p.Ser647Leu | |
| ENST00000682795.1:c.2228C>T | ENSP00000507574.1:p.Ser743Leu | |
| ENST00000682895.1:n.1797C>T | ||
| ENST00000682955.1:n.1655C>T | ||
| ENST00000683188.1:c.2342C>T | ||
| ENST00000683380.1:n.1745C>T | ||
| ENST00000683907.1:c.346C>T | ENSP00000507754.1:n.346C>T | |
| ENST00000684259.1:n.3848C>T | ||
| ENST00000684538.1:n.1460C>T | ||
| ENST00000684549.1:n.1632C>T | ||
| ENST00000261534.9:c.2081C>T MANE Select | ENSP00000261534.4:p.Ser694Leu | |
| ENST00000261534.8:c.2081C>T | ENSP00000261534.4:p.Ser694Leu | |
| ENST00000452340.7:n.3057C>T | ||
| ENST00000554767.5:n.2867C>T | ||
| ENST00000555710.1:c.442C>T | ENSP00000451730.1:n.442C>T | |
| ENST00000556394.1:c.136C>T | ||
| ENST00000556446.1:n.382C>T | ||
| ENST00000602717.5:c.296C>T | ENSP00000487704.1:p.Ser99Leu | |
| NM_013382.5:c.2081C>T , LRG_844t1:c.2081C>T | NP_037514.2:p.Ser694Leu | |
| XM_011536675.1:c.2270C>T | XP_011534977.1:p.Ser757Leu | |
| XM_011536676.1:c.1937C>T | XP_011534978.1:p.Ser646Leu | |
| XM_011536677.1:c.1811C>T | XP_011534979.1:p.Ser604Leu | |
| XM_011536679.1:c.1364C>T | XP_011534981.1:p.Ser455Leu | |
| XR_943416.1:n.2334C>T | ||
| XM_011536675.2:c.2270C>T | XP_011534977.1:p.Ser757Leu | |
| XM_011536676.2:c.1937C>T | XP_011534978.1:p.Ser646Leu | |
| XM_011536677.3:c.1811C>T | XP_011534979.1:p.Ser604Leu | |
| XR_001750279.1:n.2367C>T | ||
| XR_001750282.1:n.3020C>T | ||
| XR_943416.3:n.2332C>T | ||
| NM_013382.6:c.2081C>T | NP_037514.2:p.Ser694Leu | |
| NM_013382.7:c.2081C>T MANE Select | NP_037514.2:p.Ser694Leu |