Linked Data
ClinVar Variation Id:
284450
dbSNP Id:
rs141193672
ExAC:
14:77745169 G / A
gnomAD v2:
14-77745169-G-A
gnomAD v3:
14-77278826-G-A
gnomAD v4:
14-77278826-G-A
COSMIC:
COSM4052579
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278826G>A , CM000676.2:g.77278826G>A | GRCh38 |
| NC_000014.8:g.77745169G>A , CM000676.1:g.77745169G>A | GRCh37 |
| NC_000014.7:g.76814922G>A | NCBI36 |
| NG_008897.1:g.47057C>T , LRG_844:g.47057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.860C>T | ||
| ENST00000556394.2:c.1476C>T | ENSP00000451967.2:p.Leu492= | |
| ENST00000682128.1:c.236C>T | ENSP00000506976.1:n.236C>T | |
| ENST00000682247.1:c.1924C>T | ENSP00000507213.1:p.Arg642Trp | |
| ENST00000682395.1:n.2399C>T | ||
| ENST00000682459.1:n.1638C>T | ||
| ENST00000682467.1:c.1892-318C>T | ENSP00000508062.1:n.1892-318C>T | |
| ENST00000682615.1:n.289C>T | ||
| ENST00000682795.1:c.2082C>T | ENSP00000507574.1:p.Leu694= | |
| ENST00000682895.1:n.1651C>T | ||
| ENST00000682955.1:n.1509C>T | ||
| ENST00000683095.1:c.341C>T | ENSP00000508040.1:n.341C>T | |
| ENST00000683188.1:c.2196C>T | ||
| ENST00000683380.1:n.1599C>T | ||
| ENST00000683828.1:c.1644C>T | ||
| ENST00000683907.1:c.200C>T | ENSP00000507754.1:p.Ser67Leu | |
| ENST00000684172.1:c.311C>T | ENSP00000508391.1:n.311C>T | |
| ENST00000684259.1:n.3702C>T | ||
| ENST00000684538.1:n.1314C>T | ||
| ENST00000684549.1:n.1486C>T | ||
| ENST00000261534.9:c.1935C>T MANE Select | ENSP00000261534.4:p.Leu645= | |
| ENST00000261534.8:c.1935C>T | ENSP00000261534.4:p.Leu645= | |
| ENST00000452340.7:n.2911C>T | ||
| ENST00000554767.5:n.2721C>T | ||
| ENST00000555134.1:n.860C>T | ||
| ENST00000555710.1:c.296C>T | ENSP00000451730.1:n.296C>T | |
| ENST00000556171.1:c.527C>T | ||
| ENST00000556394.1:c.88-318C>T | ||
| ENST00000556446.1:n.236C>T | ||
| ENST00000602717.5:c.150C>T | ENSP00000487704.1:p.Leu50= | |
| NM_013382.5:c.1935C>T , LRG_844t1:c.1935C>T | NP_037514.2:p.Leu645= | |
| XM_011536675.1:c.2124C>T | XP_011534977.1:p.Leu708= | |
| XM_011536676.1:c.1791C>T | XP_011534978.1:p.Leu597= | |
| XM_011536677.1:c.1665C>T | XP_011534979.1:p.Leu555= | |
| XM_011536679.1:c.1218C>T | XP_011534981.1:p.Leu406= | |
| XR_943416.1:n.2188C>T | ||
| XM_011536675.2:c.2124C>T | XP_011534977.1:p.Leu708= | |
| XM_011536676.2:c.1791C>T | XP_011534978.1:p.Leu597= | |
| XM_011536677.3:c.1665C>T | XP_011534979.1:p.Leu555= | |
| XR_001750279.1:n.2221C>T | ||
| XR_001750282.1:n.2874C>T | ||
| XR_943416.3:n.2186C>T | ||
| NM_013382.6:c.1935C>T | NP_037514.2:p.Leu645= | |
| NM_013382.7:c.1935C>T MANE Select | NP_037514.2:p.Leu645= |