Linked Data
ClinVar Variation Id:
95544
dbSNP Id:
rs398124265
ExAC:
14:77769275 G / A
gnomAD v2:
14-77769275-G-A
gnomAD v4:
14-77302932-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77302932G>A , CM000676.2:g.77302932G>A | GRCh38 |
| NC_000014.8:g.77769275G>A , CM000676.1:g.77769275G>A | GRCh37 |
| NC_000014.7:g.76839028G>A | NCBI36 |
| NG_008897.1:g.22951C>T , LRG_844:g.22951C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553863.6:c.110-1683C>T | ENSP00000508202.1:n.110-1683C>T | |
| ENST00000555675.6:n.1824C>T | ||
| ENST00000556394.2:c.357+1760C>T | ENSP00000451967.2:n.357+1760C>T | |
| ENST00000556880.6:n.583C>T | ||
| ENST00000682247.1:c.559C>T | ENSP00000507213.1:p.Leu187Phe | |
| ENST00000682377.1:c.139C>T | ENSP00000507494.1:p.Leu47Phe | |
| ENST00000682382.1:c.495+1760C>T | ||
| ENST00000682395.1:n.288C>T | ||
| ENST00000682459.1:n.223C>T | ||
| ENST00000682467.1:c.559C>T | ENSP00000508062.1:p.Leu187Phe | |
| ENST00000682795.1:c.559C>T | ENSP00000507574.1:p.Leu187Phe | |
| ENST00000682895.1:n.275C>T | ||
| ENST00000682955.1:n.211+1760C>T | ||
| ENST00000683188.1:c.342+1760C>T | ||
| ENST00000683300.1:c.109+1760C>T | ENSP00000507630.1:n.109+1760C>T | |
| ENST00000683328.1:c.109+1760C>T | ENSP00000508096.1:n.109+1760C>T | |
| ENST00000683380.1:n.223C>T | ||
| ENST00000683551.1:c.12C>T | ||
| ENST00000683828.1:c.428C>T | ||
| ENST00000684102.1:n.1841C>T | ||
| ENST00000684259.1:n.410C>T | ||
| ENST00000684549.1:n.367+1760C>T | ||
| ENST00000261534.9:c.559C>T MANE Select | ENSP00000261534.4:p.Leu187Phe | |
| ENST00000261534.8:c.559C>T | ENSP00000261534.4:p.Leu187Phe | |
| ENST00000452340.7:n.582C>T | ||
| ENST00000553863.5:n.223C>T | ||
| ENST00000554948.1:c.286C>T | ENSP00000452060.1:p.Leu96Phe | |
| ENST00000555675.5:n.275C>T | ||
| ENST00000556326.5:c.*225C>T | ENSP00000450630.1:n.*225C>T | |
| ENST00000556880.5:n.583C>T | ||
| ENST00000557289.1:c.55+1760C>T | ENSP00000451115.1:n.55+1760C>T | |
| NM_013382.5:c.559C>T , LRG_844t1:c.559C>T | NP_037514.2:p.Leu187Phe | |
| XM_011536675.1:c.559C>T | XP_011534977.1:p.Leu187Phe | |
| XM_011536676.1:c.226C>T | XP_011534978.1:p.Leu76Phe | |
| XM_011536677.1:c.547+1760C>T | XP_011534979.1:n.547+1760C>T | |
| XM_011536678.1:c.559C>T | XP_011534980.1:p.Leu187Phe | |
| XM_011536679.1:c.-91+1760C>T | XP_011534981.1:n.-91+1760C>T | |
| XM_011536680.1:c.559C>T | XP_011534982.1:p.Leu187Phe | |
| XR_943416.1:n.762C>T | ||
| XM_011536675.2:c.559C>T | XP_011534977.1:p.Leu187Phe | |
| XM_011536676.2:c.226C>T | XP_011534978.1:p.Leu76Phe | |
| XM_011536677.3:c.547+1760C>T | XP_011534979.1:n.547+1760C>T | |
| XR_001750279.1:n.759C>T | ||
| XR_001750282.1:n.763C>T | ||
| XR_943416.3:n.760C>T | ||
| NM_013382.6:c.559C>T | NP_037514.2:p.Leu187Phe | |
| NM_013382.7:c.559C>T MANE Select | NP_037514.2:p.Leu187Phe |