Linked Data
ClinVar Variation Id:
288887
dbSNP Id:
rs759220971
ExAC:
14:77746233 G / A
gnomAD v2:
14-77746233-G-A
gnomAD v3:
14-77279890-G-A
gnomAD v4:
14-77279890-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77279890G>A , CM000676.2:g.77279890G>A | GRCh38 |
| NC_000014.8:g.77746233G>A , CM000676.1:g.77746233G>A | GRCh37 |
| NC_000014.7:g.76815986G>A | NCBI36 |
| NG_008897.1:g.45993C>T , LRG_844:g.45993C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.463C>T | ||
| ENST00000556394.2:c.1365C>T | ENSP00000451967.2:p.Tyr455= | |
| ENST00000682128.1:c.39C>T | ENSP00000506976.1:p.Tyr13= | |
| ENST00000682247.1:c.1824C>T | ENSP00000507213.1:p.Tyr608= | |
| ENST00000682382.1:c.2472C>T | ||
| ENST00000682395.1:n.2002C>T | ||
| ENST00000682459.1:n.1527C>T | ||
| ENST00000682467.1:c.1824C>T | ENSP00000508062.1:p.Tyr608= | |
| ENST00000682615.1:n.39C>T | ||
| ENST00000682795.1:c.1824C>T | ENSP00000507574.1:p.Tyr608= | |
| ENST00000682895.1:n.1540C>T | ||
| ENST00000682955.1:n.1112C>T | ||
| ENST00000682973.1:c.111C>T | ENSP00000508268.1:p.Tyr37= | |
| ENST00000683095.1:c.230C>T | ENSP00000508040.1:n.230C>T | |
| ENST00000683188.1:c.1799C>T | ||
| ENST00000683380.1:n.1488C>T | ||
| ENST00000683828.1:c.1533C>T | ||
| ENST00000683907.1:c.39C>T | ENSP00000507754.1:p.Tyr13= | |
| ENST00000684172.1:c.200C>T | ENSP00000508391.1:n.200C>T | |
| ENST00000684259.1:n.2638C>T | ||
| ENST00000684538.1:n.250C>T | ||
| ENST00000684549.1:n.1375C>T | ||
| ENST00000261534.9:c.1824C>T MANE Select | ENSP00000261534.4:p.Tyr608= | |
| ENST00000261534.8:c.1824C>T | ENSP00000261534.4:p.Tyr608= | |
| ENST00000452340.7:n.1847C>T | ||
| ENST00000554767.5:n.2610C>T | ||
| ENST00000555134.1:n.463C>T | ||
| ENST00000555710.1:c.93C>T | ENSP00000451730.1:p.Tyr31= | |
| ENST00000556171.1:c.227C>T | ||
| ENST00000556394.1:c.20C>T | ||
| ENST00000602717.5:c.39C>T | ENSP00000487704.1:p.Tyr13= | |
| NM_013382.5:c.1824C>T , LRG_844t1:c.1824C>T | NP_037514.2:p.Tyr608= | |
| XM_011536675.1:c.1824C>T | XP_011534977.1:p.Tyr608= | |
| XM_011536676.1:c.1491C>T | XP_011534978.1:p.Tyr497= | |
| XM_011536677.1:c.1365C>T | XP_011534979.1:p.Tyr455= | |
| XM_011536678.1:c.1824C>T | XP_011534980.1:p.Tyr608= | |
| XM_011536679.1:c.918C>T | XP_011534981.1:p.Tyr306= | |
| XR_943416.1:n.2027C>T | ||
| XM_011536675.2:c.1824C>T | XP_011534977.1:p.Tyr608= | |
| XM_011536676.2:c.1491C>T | XP_011534978.1:p.Tyr497= | |
| XM_011536677.3:c.1365C>T | XP_011534979.1:p.Tyr455= | |
| XR_001750279.1:n.2024C>T | ||
| XR_001750282.1:n.2477C>T | ||
| XR_943416.3:n.2025C>T | ||
| NM_013382.6:c.1824C>T | NP_037514.2:p.Tyr608= | |
| NM_013382.7:c.1824C>T MANE Select | NP_037514.2:p.Tyr608= |