Linked Data
ClinVar Variation Id:
1106721
ClinVar RCV Id:
RCV001431573
dbSNP Id:
rs746961120
gnomAD v4:
1-173909928-T-G
MyVariant Identifiers:
chr1:g.173879066T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909928T>G , CM000663.2:g.173909928T>G | GRCh38 |
| NC_000001.10:g.173879066T>G , CM000663.1:g.173879066T>G | GRCh37 |
| NC_000001.9:g.172145689T>G | NCBI36 |
| NG_012462.1:g.12451A>C , LRG_577:g.12451A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.777A>C MANE Select | ENSP00000356671.3:p.Ser259= | |
| ENST00000367698.3:c.777A>C | ENSP00000356671.3:p.Ser259= | |
| ENST00000487183.1:n.428A>C | ||
| ENST00000617423.4:c.559+1936A>C | ENSP00000478688.1:n.559+1936A>C | |
| NM_000488.3:c.777A>C , LRG_577t1:c.777A>C | NP_000479.1:p.Ser259= | |
| XM_005245198.2:c.633A>C | XP_005245255.1:p.Ser211= | |
| NM_001365052.1:c.633A>C | NP_001351981.1:p.Ser211= | |
| NM_000488.4:c.777A>C MANE Select | NP_000479.1:p.Ser259= | |
| NM_001365052.2:c.633A>C | NP_001351981.1:p.Ser211= | |
| NM_001386302.1:c.900A>C | NP_001373231.1:p.Ser300= | |
| NM_001386303.1:c.858A>C | NP_001373232.1:p.Ser286= | |
| NM_001386304.1:c.756A>C | NP_001373233.1:p.Ser252= | |
| NM_001386305.1:c.763-43A>C | NP_001373234.1:n.763-43A>C | |
| NM_001386306.1:c.561A>C | NP_001373235.1:p.Ser187= |