Linked Data
ClinVar Variation Id:
2886088
ClinVar RCV Id:
RCV003638407
dbSNP Id:
rs572313182
ExAC:
1:173878965 C / T
gnomAD v2:
1-173878965-C-T
gnomAD v3:
1-173909827-C-T
gnomAD v4:
1-173909827-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909827C>T , CM000663.2:g.173909827C>T | GRCh38 |
| NC_000001.10:g.173878965C>T , CM000663.1:g.173878965C>T | GRCh37 |
| NC_000001.9:g.172145588C>T | NCBI36 |
| NG_012462.1:g.12552G>A , LRG_577:g.12552G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.878G>A MANE Select | ENSP00000356671.3:p.Arg293Gln | |
| ENST00000367698.3:c.878G>A | ENSP00000356671.3:p.Arg293Gln | |
| ENST00000487183.1:n.529G>A | ||
| ENST00000617423.4:c.559+2037G>A | ENSP00000478688.1:n.559+2037G>A | |
| NM_000488.3:c.878G>A , LRG_577t1:c.878G>A | NP_000479.1:p.Arg293Gln | |
| XM_005245198.2:c.734G>A | XP_005245255.1:p.Arg245Gln | |
| NM_001365052.1:c.734G>A | NP_001351981.1:p.Arg245Gln | |
| NM_000488.4:c.878G>A MANE Select | NP_000479.1:p.Arg293Gln | |
| NM_001365052.2:c.734G>A | NP_001351981.1:p.Arg245Gln | |
| NM_001386302.1:c.1001G>A | NP_001373231.1:p.Arg334Gln | |
| NM_001386303.1:c.959G>A | NP_001373232.1:p.Arg320Gln | |
| NM_001386304.1:c.857G>A | NP_001373233.1:p.Arg286Gln | |
| NM_001386305.1:c.821G>A | NP_001373234.1:p.Arg274Gln | |
| NM_001386306.1:c.662G>A | NP_001373235.1:p.Arg221Gln |