Linked Data
ClinVar Variation Id:
512540
dbSNP Id:
rs751776398
ExAC:
14:77745091 G / A
gnomAD v2:
14-77745091-G-A
gnomAD v3:
14-77278748-G-A
gnomAD v4:
14-77278748-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278748G>A , CM000676.2:g.77278748G>A | GRCh38 |
| NC_000014.8:g.77745091G>A , CM000676.1:g.77745091G>A | GRCh37 |
| NC_000014.7:g.76814844G>A | NCBI36 |
| NG_008897.1:g.47135C>T , LRG_844:g.47135C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.938C>T | ||
| ENST00000556394.2:c.1554C>T | ENSP00000451967.2:p.Leu518= | |
| ENST00000682128.1:c.314C>T | ENSP00000506976.1:n.314C>T | |
| ENST00000682247.1:c.2002C>T | ENSP00000507213.1:p.Leu668Phe | |
| ENST00000682395.1:n.2477C>T | ||
| ENST00000682459.1:n.1716C>T | ||
| ENST00000682467.1:c.1892-240C>T | ENSP00000508062.1:n.1892-240C>T | |
| ENST00000682615.1:n.367C>T | ||
| ENST00000682795.1:c.2160C>T | ENSP00000507574.1:p.Leu720= | |
| ENST00000682895.1:n.1729C>T | ||
| ENST00000682955.1:n.1587C>T | ||
| ENST00000683095.1:c.419C>T | ENSP00000508040.1:n.419C>T | |
| ENST00000683188.1:c.2274C>T | ||
| ENST00000683380.1:n.1677C>T | ||
| ENST00000683907.1:c.278C>T | ENSP00000507754.1:n.278C>T | |
| ENST00000684172.1:c.389C>T | ENSP00000508391.1:n.389C>T | |
| ENST00000684259.1:n.3780C>T | ||
| ENST00000684538.1:n.1392C>T | ||
| ENST00000684549.1:n.1564C>T | ||
| ENST00000261534.9:c.2013C>T MANE Select | ENSP00000261534.4:p.Leu671= | |
| ENST00000261534.8:c.2013C>T | ENSP00000261534.4:p.Leu671= | |
| ENST00000452340.7:n.2989C>T | ||
| ENST00000554767.5:n.2799C>T | ||
| ENST00000555710.1:c.374C>T | ENSP00000451730.1:n.374C>T | |
| ENST00000556394.1:c.88-240C>T | ||
| ENST00000556446.1:n.314C>T | ||
| ENST00000602717.5:c.228C>T | ENSP00000487704.1:p.Leu76= | |
| NM_013382.5:c.2013C>T , LRG_844t1:c.2013C>T | NP_037514.2:p.Leu671= | |
| XM_011536675.1:c.2202C>T | XP_011534977.1:p.Leu734= | |
| XM_011536676.1:c.1869C>T | XP_011534978.1:p.Leu623= | |
| XM_011536677.1:c.1743C>T | XP_011534979.1:p.Leu581= | |
| XM_011536679.1:c.1296C>T | XP_011534981.1:p.Leu432= | |
| XR_943416.1:n.2266C>T | ||
| XM_011536675.2:c.2202C>T | XP_011534977.1:p.Leu734= | |
| XM_011536676.2:c.1869C>T | XP_011534978.1:p.Leu623= | |
| XM_011536677.3:c.1743C>T | XP_011534979.1:p.Leu581= | |
| XR_001750279.1:n.2299C>T | ||
| XR_001750282.1:n.2952C>T | ||
| XR_943416.3:n.2264C>T | ||
| NM_013382.6:c.2013C>T | NP_037514.2:p.Leu671= | |
| NM_013382.7:c.2013C>T MANE Select | NP_037514.2:p.Leu671= |