Linked Data
dbSNP Id:
rs752902455
ExAC:
14:77744808 C / A
gnomAD v2:
14-77744808-C-A
gnomAD v4:
14-77278465-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278465C>A , CM000676.2:g.77278465C>A | GRCh38 |
| NC_000014.8:g.77744808C>A , CM000676.1:g.77744808C>A | GRCh37 |
| NC_000014.7:g.76814561C>A | NCBI36 |
| NG_008897.1:g.47418G>T , LRG_844:g.47418G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.1001G>T | ||
| ENST00000556394.2:c.1617G>T | ENSP00000451967.2:p.Leu539Phe | |
| ENST00000682247.1:c.2065G>T | ENSP00000507213.1:p.Gly689Cys | |
| ENST00000682395.1:n.2540G>T | ||
| ENST00000682459.1:n.1779G>T | ||
| ENST00000682467.1:c.1935G>T | ENSP00000508062.1:p.Leu645Phe | |
| ENST00000682795.1:c.2223G>T | ENSP00000507574.1:p.Leu741Phe | |
| ENST00000682895.1:n.1792G>T | ||
| ENST00000682955.1:n.1650G>T | ||
| ENST00000683188.1:c.2337G>T | ||
| ENST00000683380.1:n.1740G>T | ||
| ENST00000683907.1:c.341G>T | ENSP00000507754.1:n.341G>T | |
| ENST00000684259.1:n.3843G>T | ||
| ENST00000684538.1:n.1455G>T | ||
| ENST00000684549.1:n.1627G>T | ||
| ENST00000261534.9:c.2076G>T MANE Select | ENSP00000261534.4:p.Leu692Phe | |
| ENST00000261534.8:c.2076G>T | ENSP00000261534.4:p.Leu692Phe | |
| ENST00000452340.7:n.3052G>T | ||
| ENST00000554767.5:n.2862G>T | ||
| ENST00000555710.1:c.437G>T | ENSP00000451730.1:n.437G>T | |
| ENST00000556394.1:c.131G>T | ||
| ENST00000556446.1:n.377G>T | ||
| ENST00000602717.5:c.291G>T | ENSP00000487704.1:p.Leu97Phe | |
| NM_013382.5:c.2076G>T , LRG_844t1:c.2076G>T | NP_037514.2:p.Leu692Phe | |
| XM_011536675.1:c.2265G>T | XP_011534977.1:p.Leu755Phe | |
| XM_011536676.1:c.1932G>T | XP_011534978.1:p.Leu644Phe | |
| XM_011536677.1:c.1806G>T | XP_011534979.1:p.Leu602Phe | |
| XM_011536679.1:c.1359G>T | XP_011534981.1:p.Leu453Phe | |
| XR_943416.1:n.2329G>T | ||
| XM_011536675.2:c.2265G>T | XP_011534977.1:p.Leu755Phe | |
| XM_011536676.2:c.1932G>T | XP_011534978.1:p.Leu644Phe | |
| XM_011536677.3:c.1806G>T | XP_011534979.1:p.Leu602Phe | |
| XR_001750279.1:n.2362G>T | ||
| XR_001750282.1:n.3015G>T | ||
| XR_943416.3:n.2327G>T | ||
| NM_013382.6:c.2076G>T | NP_037514.2:p.Leu692Phe | |
| NM_013382.7:c.2076G>T MANE Select | NP_037514.2:p.Leu692Phe |