Linked Data
ClinVar Variation Id:
378419
dbSNP Id:
rs766169193
ExAC:
14:77746387 G / A
gnomAD v2:
14-77746387-G-A
gnomAD v3:
14-77280044-G-A
gnomAD v4:
14-77280044-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77280044G>A , CM000676.2:g.77280044G>A | GRCh38 |
| NC_000014.8:g.77746387G>A , CM000676.1:g.77746387G>A | GRCh37 |
| NC_000014.7:g.76816140G>A | NCBI36 |
| NG_008897.1:g.45839C>T , LRG_844:g.45839C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.401C>T | ||
| ENST00000556394.2:c.1303C>T | ENSP00000451967.2:p.Arg435Ter | |
| ENST00000682247.1:c.1762C>T | ENSP00000507213.1:p.Arg588Ter | |
| ENST00000682382.1:c.2410C>T | ||
| ENST00000682395.1:n.1940C>T | ||
| ENST00000682459.1:n.1465C>T | ||
| ENST00000682467.1:c.1762C>T | ENSP00000508062.1:p.Arg588Ter | |
| ENST00000682560.1:c.338C>T | ENSP00000507033.1:n.338C>T | |
| ENST00000682795.1:c.1762C>T | ENSP00000507574.1:p.Arg588Ter | |
| ENST00000682895.1:n.1478C>T | ||
| ENST00000682925.1:c.252C>T | ||
| ENST00000682955.1:n.1050C>T | ||
| ENST00000682973.1:c.73-116C>T | ENSP00000508268.1:n.73-116C>T | |
| ENST00000683095.1:c.168C>T | ENSP00000508040.1:p.Ser56= | |
| ENST00000683188.1:c.1737C>T | ||
| ENST00000683380.1:n.1426C>T | ||
| ENST00000683828.1:c.1471C>T | ||
| ENST00000684172.1:c.138C>T | ENSP00000508391.1:p.Ser46= | |
| ENST00000684259.1:n.2576C>T | ||
| ENST00000684538.1:n.188C>T | ||
| ENST00000684549.1:n.1313C>T | ||
| ENST00000261534.9:c.1762C>T MANE Select | ENSP00000261534.4:p.Arg588Ter | |
| ENST00000261534.8:c.1762C>T | ENSP00000261534.4:p.Arg588Ter | |
| ENST00000452340.7:n.1785C>T | ||
| ENST00000554767.5:n.2548C>T | ||
| ENST00000555134.1:n.401C>T | ||
| ENST00000555710.1:c.31C>T | ENSP00000451730.1:p.Arg11Ter | |
| ENST00000556171.1:c.165C>T | ||
| NM_013382.5:c.1762C>T , LRG_844t1:c.1762C>T | NP_037514.2:p.Arg588Ter | |
| XM_011536675.1:c.1762C>T | XP_011534977.1:p.Arg588Ter | |
| XM_011536676.1:c.1429C>T | XP_011534978.1:p.Arg477Ter | |
| XM_011536677.1:c.1303C>T | XP_011534979.1:p.Arg435Ter | |
| XM_011536678.1:c.1762C>T | XP_011534980.1:p.Arg588Ter | |
| XM_011536679.1:c.856C>T | XP_011534981.1:p.Arg286Ter | |
| XR_943416.1:n.1965C>T | ||
| XM_011536675.2:c.1762C>T | XP_011534977.1:p.Arg588Ter | |
| XM_011536676.2:c.1429C>T | XP_011534978.1:p.Arg477Ter | |
| XM_011536677.3:c.1303C>T | XP_011534979.1:p.Arg435Ter | |
| XR_001750279.1:n.1962C>T | ||
| XR_001750282.1:n.2415C>T | ||
| XR_943416.3:n.1963C>T | ||
| NM_013382.6:c.1762C>T | NP_037514.2:p.Arg588Ter | |
| NM_013382.7:c.1762C>T MANE Select | NP_037514.2:p.Arg588Ter |