Linked Data
ClinVar Variation Id:
2468940
ClinVar RCV Id:
RCV003207328
dbSNP Id:
rs200653375
ExAC:
20:5948123 G / A
gnomAD v2:
20-5948123-G-A
gnomAD v3:
20-5967477-G-A
gnomAD v4:
20-5967477-G-A
PubMed:
PMID:28263302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5967477G>A , CM000682.2:g.5967477G>A | GRCh38 |
| NC_000020.10:g.5948123G>A , CM000682.1:g.5948123G>A | GRCh37 |
| NC_000020.9:g.5896123G>A | NCBI36 |
| NG_042869.1:g.21826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652720.1:c.917G>A | ENSP00000498784.1:p.Arg306Gln | |
| ENST00000265187.4:c.917G>A | ENSP00000265187.4:p.Arg306Gln | |
| ENST00000378883.5:c.917G>A | ENSP00000368161.1:p.Arg306Gln | |
| ENST00000378886.6:c.917G>A | ENSP00000368164.2:p.Arg306Gln | |
| ENST00000378896.7:c.917G>A | ENSP00000368174.3:p.Arg306Gln | |
| ENST00000610722.4:c.917G>A MANE Select | ENSP00000478141.1:p.Arg306Gln | |
| NM_001281520.1:c.917G>A | NP_001268449.1:p.Arg306Gln | |
| NM_001281521.1:c.917G>A | NP_001268450.1:p.Arg306Gln | |
| NM_001281522.1:c.917G>A | NP_001268451.1:p.Arg306Gln | |
| NM_032485.5:c.917G>A | NP_115874.3:p.Arg306Gln | |
| NM_182802.2:c.917G>A | NP_877954.1:p.Arg306Gln | |
| XM_011529387.1:c.917G>A | XP_011527689.1:p.Arg306Gln | |
| XR_937169.1:n.1257G>A | ||
| XM_011529387.2:c.917G>A | XP_011527689.1:p.Arg306Gln | |
| XM_017028105.1:c.917G>A | XP_016883594.1:p.Arg306Gln | |
| XM_017028106.1:c.725G>A | XP_016883595.1:p.Arg242Gln | |
| XM_017028107.1:c.68G>A | XP_016883596.1:p.Arg23Gln | |
| XR_001754422.1:n.1257G>A | ||
| XR_001754423.1:n.1257G>A | ||
| NM_032485.6:c.917G>A MANE Select | NP_115874.3:p.Arg306Gln | |
| NM_182802.3:c.917G>A | NP_877954.1:p.Arg306Gln | |
| NM_001281520.2:c.917G>A | NP_001268449.1:p.Arg306Gln | |
| NM_001281521.2:c.917G>A | NP_001268450.1:p.Arg306Gln | |
| NM_001281522.2:c.917G>A | NP_001268451.1:p.Arg306Gln |