Linked Data
ClinVar Variation Id:
2863
ClinVar RCV Id:
RCV000002997
dbSNP Id:
rs267606622
gnomAD v4:
2-214990791-C-T
PubMed:
PMID:16902423
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214990791C>T , CM000664.2:g.214990791C>T | GRCh38 |
| NC_000002.11:g.215855515C>T , CM000664.1:g.215855515C>T | GRCh37 |
| NC_000002.10:g.215563760C>T | NCBI36 |
| NG_007074.1:g.152637G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.3535G>A MANE Select | ENSP00000272895.7:p.Gly1179Arg | |
| ENST00000272895.11:c.3535G>A | ENSP00000272895.7:p.Gly1179Arg | |
| ENST00000389661.4:c.2581G>A | ENSP00000374312.4:p.Gly861Arg | |
| NM_015657.3:c.2581G>A | NP_056472.2:p.Gly861Arg | |
| NM_173076.2:c.3535G>A | NP_775099.2:p.Gly1179Arg | |
| NR_103740.1:n.3835G>A | ||
| XM_011510951.1:c.3535G>A | XP_011509253.1:p.Gly1179Arg | |
| XM_011510952.1:c.3535G>A | XP_011509254.1:p.Gly1179Arg | |
| XM_011510951.2:c.3535G>A | XP_011509253.1:p.Gly1179Arg | |
| NM_173076.3:c.3535G>A MANE Select | NP_775099.2:p.Gly1179Arg | |
| NR_103740.2:n.4033G>A | ||
| NM_015657.4:c.2581G>A | NP_056472.2:p.Gly861Arg |