Linked Data
ClinVar Variation Id:
282171
dbSNP Id:
rs758678348
ExAC:
14:77744812 C / A
gnomAD v2:
14-77744812-C-A
gnomAD v3:
14-77278469-C-A
gnomAD v4:
14-77278469-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278469C>A , CM000676.2:g.77278469C>A | GRCh38 |
| NC_000014.8:g.77744812C>A , CM000676.1:g.77744812C>A | GRCh37 |
| NC_000014.7:g.76814565C>A | NCBI36 |
| NG_008897.1:g.47414G>T , LRG_844:g.47414G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.997G>T | ||
| ENST00000556394.2:c.1613G>T | ENSP00000451967.2:p.Gly538Val | |
| ENST00000682247.1:c.2061G>T | ENSP00000507213.1:p.Gly687= | |
| ENST00000682395.1:n.2536G>T | ||
| ENST00000682459.1:n.1775G>T | ||
| ENST00000682467.1:c.1931G>T | ENSP00000508062.1:p.Gly644Val | |
| ENST00000682795.1:c.2219G>T | ENSP00000507574.1:p.Gly740Val | |
| ENST00000682895.1:n.1788G>T | ||
| ENST00000682955.1:n.1646G>T | ||
| ENST00000683188.1:c.2333G>T | ||
| ENST00000683380.1:n.1736G>T | ||
| ENST00000683907.1:c.337G>T | ENSP00000507754.1:n.337G>T | |
| ENST00000684259.1:n.3839G>T | ||
| ENST00000684538.1:n.1451G>T | ||
| ENST00000684549.1:n.1623G>T | ||
| ENST00000261534.9:c.2072G>T MANE Select | ENSP00000261534.4:p.Gly691Val | |
| ENST00000261534.8:c.2072G>T | ENSP00000261534.4:p.Gly691Val | |
| ENST00000452340.7:n.3048G>T | ||
| ENST00000554767.5:n.2858G>T | ||
| ENST00000555710.1:c.433G>T | ENSP00000451730.1:n.433G>T | |
| ENST00000556394.1:c.127G>T | ||
| ENST00000556446.1:n.373G>T | ||
| ENST00000602717.5:c.287G>T | ENSP00000487704.1:p.Gly96Val | |
| NM_013382.5:c.2072G>T , LRG_844t1:c.2072G>T | NP_037514.2:p.Gly691Val | |
| XM_011536675.1:c.2261G>T | XP_011534977.1:p.Gly754Val | |
| XM_011536676.1:c.1928G>T | XP_011534978.1:p.Gly643Val | |
| XM_011536677.1:c.1802G>T | XP_011534979.1:p.Gly601Val | |
| XM_011536679.1:c.1355G>T | XP_011534981.1:p.Gly452Val | |
| XR_943416.1:n.2325G>T | ||
| XM_011536675.2:c.2261G>T | XP_011534977.1:p.Gly754Val | |
| XM_011536676.2:c.1928G>T | XP_011534978.1:p.Gly643Val | |
| XM_011536677.3:c.1802G>T | XP_011534979.1:p.Gly601Val | |
| XR_001750279.1:n.2358G>T | ||
| XR_001750282.1:n.3011G>T | ||
| XR_943416.3:n.2323G>T | ||
| NM_013382.6:c.2072G>T | NP_037514.2:p.Gly691Val | |
| NM_013382.7:c.2072G>T MANE Select | NP_037514.2:p.Gly691Val |