Linked Data
ClinVar Variation Id:
13682
ClinVar RCV Id:
RCV000014675
RCV000014676
RCV000668001
RCV000723607
RCV001826462
RCV003335039
RCV003466859
dbSNP Id:
rs121918018
gnomAD v2:
1-21894694-G-T
gnomAD v3:
1-21568201-G-T
gnomAD v4:
1-21568201-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21568201G>T , CM000663.2:g.21568201G>T | GRCh38 |
| NC_000001.10:g.21894694G>T , CM000663.1:g.21894694G>T | GRCh37 |
| NC_000001.9:g.21767281G>T | NCBI36 |
| NG_008940.1:g.63837G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.746G>T MANE Select | ENSP00000363973.3:p.Gly249Val | |
| ENST00000374832.5:c.746G>T | ENSP00000363965.1:p.Gly249Val | |
| ENST00000374840.7:c.746G>T | ENSP00000363973.3:p.Gly249Val | |
| ENST00000539907.5:c.515G>T | ENSP00000437674.1:p.Gly172Val | |
| ENST00000540617.5:c.581G>T | ENSP00000442672.1:p.Gly194Val | |
| NM_000478.4:c.746G>T | NP_000469.3:p.Gly249Val | |
| NM_001127501.2:c.581G>T | NP_001120973.2:p.Gly194Val | |
| NM_001177520.1:c.515G>T | NP_001170991.1:p.Gly172Val | |
| XM_005245818.1:c.746G>T | XP_005245875.1:p.Gly249Val | |
| XM_005245820.2:c.746G>T | XP_005245877.1:p.Gly249Val | |
| XM_006710546.1:c.746G>T | XP_006710609.1:p.Gly249Val | |
| NM_000478.5:c.746G>T | NP_000469.3:p.Gly249Val | |
| NM_001127501.3:c.581G>T | NP_001120973.2:p.Gly194Val | |
| NM_001177520.2:c.515G>T | NP_001170991.1:p.Gly172Val | |
| XM_006710546.3:c.746G>T | XP_006710609.1:p.Gly249Val | |
| XM_017000903.1:c.590G>T | XP_016856392.1:p.Gly197Val | |
| NM_000478.6:c.746G>T MANE Select | NP_000469.3:p.Gly249Val | |
| NM_001127501.4:c.581G>T | NP_001120973.2:p.Gly194Val | |
| NM_001177520.3:c.515G>T | NP_001170991.1:p.Gly172Val | |
| NM_001369803.2:c.746G>T | NP_001356732.1:p.Gly249Val | |
| NM_001369804.2:c.746G>T | NP_001356733.1:p.Gly249Val | |
| NM_001369805.2:c.746G>T | NP_001356734.1:p.Gly249Val |