Linked Data
ClinVar Variation Id:
18030
ClinVar RCV Id:
RCV000019646
dbSNP Id:
rs121909563
gnomAD v2:
1-173881079-C-T
gnomAD v4:
1-173911941-C-T
ERepo:
CA210779/MONDO:0013144/084
PubMed:
PMID:2229057
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173911941C>T , CM000663.2:g.173911941C>T | GRCh38 |
| NC_000001.10:g.173881079C>T , CM000663.1:g.173881079C>T | GRCh37 |
| NC_000001.9:g.172147702C>T | NCBI36 |
| NG_012462.1:g.10438G>A , LRG_577:g.10438G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.482G>A MANE Select | ENSP00000356671.3:p.Arg161Gln | |
| ENST00000367698.3:c.482G>A | ENSP00000356671.3:p.Arg161Gln | |
| ENST00000487183.1:n.187G>A | ||
| ENST00000617423.4:c.482G>A | ENSP00000478688.1:p.Arg161Gln | |
| NM_000488.3:c.482G>A , LRG_577t1:c.482G>A | NP_000479.1:p.Arg161Gln | |
| XM_005245198.2:c.338G>A | XP_005245255.1:p.Arg113Gln | |
| NM_001365052.1:c.338G>A | NP_001351981.1:p.Arg113Gln | |
| NM_000488.4:c.482G>A MANE Select | NP_000479.1:p.Arg161Gln | |
| NM_001365052.2:c.338G>A | NP_001351981.1:p.Arg113Gln | |
| NM_001386302.1:c.482G>A | NP_001373231.1:p.Arg161Gln | |
| NM_001386303.1:c.563G>A | NP_001373232.1:p.Arg188Gln | |
| NM_001386304.1:c.482G>A | NP_001373233.1:p.Arg161Gln | |
| NM_001386305.1:c.482G>A | NP_001373234.1:p.Arg161Gln | |
| NM_001386306.1:c.409-1050G>A | NP_001373235.1:n.409-1050G>A |