Linked Data
ClinVar Variation Id:
215375
ClinVar RCV Id:
RCV000197713
RCV000445379
RCV000945649
RCV001151497
RCV001151498
RCV002517278
RCV002509049
RCV004541269
dbSNP Id:
rs200135768
ExAC:
4:6279409 G / T
gnomAD v2:
4-6279409-G-T
gnomAD v3:
4-6277682-G-T
gnomAD v4:
4-6277682-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6277682G>T , CM000666.2:g.6277682G>T | GRCh38 |
| NC_000004.11:g.6279409G>T , CM000666.1:g.6279409G>T | GRCh37 |
| NC_000004.10:g.6330310G>T | NCBI36 |
| NG_011700.1:g.12833G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506588.6:n.397G>T | ||
| ENST00000682059.1:c.227G>T | ENSP00000507988.1:p.Gly76Val | |
| ENST00000682275.1:c.227G>T | ENSP00000507852.1:p.Gly76Val | |
| ENST00000683395.1:c.217G>T | ||
| ENST00000684054.1:c.227G>T | ENSP00000507120.1:p.Gly76Val | |
| ENST00000684087.1:c.227G>T | ENSP00000506978.1:p.Gly76Val | |
| ENST00000684700.1:c.227G>T | ENSP00000507806.1:p.Gly76Val | |
| ENST00000506362.2:c.-18+7668G>T | ENSP00000424103.2:n.-18+7668G>T | |
| ENST00000673642.1:c.26G>T | ENSP00000501242.1:p.Gly9Val | |
| ENST00000673991.1:c.227G>T | ENSP00000501033.1:p.Gly76Val | |
| ENST00000674051.1:c.101G>T | ENSP00000501083.1:p.Gly34Val | |
| ENST00000226760.5:c.227G>T MANE Select | ENSP00000226760.1:p.Gly76Val | |
| ENST00000503569.5:c.227G>T | ENSP00000423337.1:p.Gly76Val | |
| ENST00000506588.5:n.397G>T | ||
| NM_001145853.1:c.227G>T | NP_001139325.1:p.Gly76Val | |
| NM_006005.3:c.227G>T MANE Select | NP_005996.2:p.Gly76Val | |
| XM_017008586.1:c.236G>T | XP_016864075.1:p.Gly79Val |