Linked Data
ClinVar Variation Id:
253136
dbSNP Id:
rs886037851
gnomAD v4:
2-171813452-C-T
PubMed:
PMID:24973975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171813452C>T , CM000664.2:g.171813452C>T | GRCh38 |
| NC_000002.11:g.172669962C>T , CM000664.1:g.172669962C>T | GRCh37 |
| NC_000002.10:g.172378208C>T | NCBI36 |
| NG_011781.1:g.85852G>A | |
| NG_011781.2:g.85852G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422440.7:c.1058G>A MANE Select | ENSP00000388658.2:p.Arg353Gln | |
| ENST00000263812.8:c.*678G>A | ENSP00000263812.4:n.*678G>A | |
| ENST00000422440.6:c.1058G>A | ENSP00000388658.2:p.Arg353Gln | |
| NM_003705.4:c.1058G>A | NP_003696.2:p.Arg353Gln | |
| NR_047549.1:n.1034G>A | ||
| XM_005246923.3:c.1007G>A | XP_005246980.1:p.Arg336Gln | |
| XM_011512069.1:c.1058G>A | XP_011510371.1:p.Arg353Gln | |
| XM_011512070.1:c.785G>A | XP_011510372.1:p.Arg262Gln | |
| XM_011512070.3:c.785G>A | XP_011510372.1:p.Arg262Gln | |
| NM_003705.5:c.1058G>A MANE Select | NP_003696.2:p.Arg353Gln | |
| NR_047549.2:n.972G>A |