Linked Data
ClinVar Variation Id:
2900149
ClinVar RCV Id:
RCV003638607
dbSNP Id:
rs2102782923
MyVariant Identifiers:
chr1:g.173878949G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909811G>A , CM000663.2:g.173909811G>A | GRCh38 |
| NC_000001.10:g.173878949G>A , CM000663.1:g.173878949G>A | GRCh37 |
| NC_000001.9:g.172145572G>A | NCBI36 |
| NG_012462.1:g.12568C>T , LRG_577:g.12568C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.894C>T MANE Select | ENSP00000356671.3:p.Gly298= | |
| ENST00000367698.3:c.894C>T | ENSP00000356671.3:p.Gly298= | |
| ENST00000487183.1:n.545C>T | ||
| ENST00000617423.4:c.559+2053C>T | ENSP00000478688.1:n.559+2053C>T | |
| NM_000488.3:c.894C>T , LRG_577t1:c.894C>T | NP_000479.1:p.Gly298= | |
| XM_005245198.2:c.750C>T | XP_005245255.1:p.Gly250= | |
| NM_001365052.1:c.750C>T | NP_001351981.1:p.Gly250= | |
| NM_000488.4:c.894C>T MANE Select | NP_000479.1:p.Gly298= | |
| NM_001365052.2:c.750C>T | NP_001351981.1:p.Gly250= | |
| NM_001386302.1:c.1017C>T | NP_001373231.1:p.Gly339= | |
| NM_001386303.1:c.975C>T | NP_001373232.1:p.Gly325= | |
| NM_001386304.1:c.873C>T | NP_001373233.1:p.Gly291= | |
| NM_001386305.1:c.837C>T | NP_001373234.1:p.Gly279= | |
| NM_001386306.1:c.678C>T | NP_001373235.1:p.Gly226= |