Linked Data
ClinVar Variation Id:
92274
dbSNP Id:
rs398123081
ExAC:
17:7127299 G / C
gnomAD v2:
17-7127299-G-C
gnomAD v3:
17-7223980-G-C
gnomAD v4:
17-7223980-G-C
COSMIC:
COSM364409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223980G>C , CM000679.2:g.7223980G>C | GRCh38 |
| NC_000017.10:g.7127299G>C , CM000679.1:g.7127299G>C | GRCh37 |
| NC_000017.9:g.7068023G>C | NCBI36 |
| NG_007975.1:g.9147G>C | |
| NG_008391.2:g.1071C>G | |
| NG_033038.1:g.15565C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1345G>C MANE Select | ENSP00000349297.5:p.Glu449Gln | |
| ENST00000322910.9:c.*1300G>C | ENSP00000325395.5:n.*1300G>C | |
| ENST00000350303.9:c.1279G>C | ENSP00000344152.5:p.Glu427Gln | |
| ENST00000356839.9:c.1345G>C | ENSP00000349297.5:p.Glu449Gln | |
| ENST00000542255.6:c.203G>C | ||
| ENST00000543245.6:c.1414G>C | ENSP00000438689.2:p.Glu472Gln | |
| ENST00000578711.1:n.476G>C | ||
| ENST00000579425.5:n.461G>C | ||
| ENST00000579546.1:c.182G>C | ||
| ENST00000579894.5:n.56G>C | ||
| ENST00000583074.5:n.64G>C | ||
| ENST00000583850.5:n.120G>C | ||
| ENST00000583858.5:c.374G>C | ||
| ENST00000585203.6:n.536G>C | ||
| NM_000018.3:c.1345G>C | NP_000009.1:p.Glu449Gln | |
| NM_001033859.2:c.1279G>C | NP_001029031.1:p.Glu427Gln | |
| NM_001270447.1:c.1414G>C | NP_001257376.1:p.Glu472Gln | |
| NM_001270448.1:c.1117G>C | NP_001257377.1:p.Glu373Gln | |
| XM_006721516.2:c.1345G>C | XP_006721579.2:p.Glu449Gln | |
| XM_011523829.1:c.1345G>C | XP_011522131.1:p.Glu449Gln | |
| XM_011523830.1:c.1345G>C | XP_011522132.1:p.Glu449Gln | |
| XR_934021.1:n.1452G>C | ||
| XR_934022.1:n.1452G>C | ||
| XR_934023.1:n.1452G>C | ||
| XM_006721516.3:c.1345G>C | XP_006721579.2:p.Glu449Gln | |
| XM_011523829.2:c.1345G>C | XP_011522131.1:p.Glu449Gln | |
| XM_011523830.2:c.1345G>C | XP_011522132.1:p.Glu449Gln | |
| XM_024450741.1:c.1345G>C | XP_024306509.1:p.Glu449Gln | |
| XR_934021.2:n.1404G>C | ||
| XR_934022.2:n.1404G>C | ||
| XR_934023.2:n.1404G>C | ||
| NM_000018.4:c.1345G>C MANE Select | NP_000009.1:p.Glu449Gln | |
| NM_001033859.3:c.1279G>C | NP_001029031.1:p.Glu427Gln | |
| NM_001270447.2:c.1414G>C | NP_001257376.1:p.Glu472Gln | |
| NM_001270448.2:c.1117G>C | NP_001257377.1:p.Glu373Gln |