Linked Data
ClinVar Variation Id:
40869
ClinVar RCV Id:
RCV000033853
dbSNP Id:
rs5743708
ExAC:
4:154626317 G / A
gnomAD v2:
4-154626317-G-A
gnomAD v3:
4-153705165-G-A
gnomAD v4:
4-153705165-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153705165G>A , CM000666.2:g.153705165G>A | GRCh38 |
| NC_000004.11:g.154626317G>A , CM000666.1:g.154626317G>A | GRCh37 |
| NC_000004.10:g.154845767G>A | NCBI36 |
| NG_016229.1:g.25877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643501.2:c.2258G>A | ENSP00000496208.2:p.Arg753Gln | |
| ENST00000646219.2:c.2258G>A | ENSP00000496676.2:p.Arg753Gln | |
| ENST00000646900.2:c.2258G>A | ENSP00000493968.2:p.Arg753Gln | |
| ENST00000642580.1:c.2258G>A | ENSP00000495339.1:p.Arg753Gln | |
| ENST00000642700.2:c.2258G>A MANE Select | ENSP00000494425.1:p.Arg753Gln | |
| ENST00000643087.1:c.536G>A | ENSP00000494668.1:p.Arg179Gln | |
| ENST00000260010.6:c.2258G>A | ENSP00000260010.6:p.Arg753Gln | |
| NM_003264.3:c.2258G>A | NP_003255.2:p.Arg753Gln | |
| XM_005263193.2:c.2258G>A | XP_005263250.1:p.Arg753Gln | |
| XM_005263194.2:c.2258G>A | XP_005263251.1:p.Arg753Gln | |
| XM_005263195.2:c.2258G>A | XP_005263252.1:p.Arg753Gln | |
| XM_005263196.2:c.2258G>A | XP_005263253.1:p.Arg753Gln | |
| XM_005263197.2:c.2258G>A | XP_005263254.1:p.Arg753Gln | |
| XM_011532215.1:c.2258G>A | XP_011530517.1:p.Arg753Gln | |
| XM_011532216.1:c.2258G>A | XP_011530518.1:p.Arg753Gln | |
| NM_001318787.1:c.2258G>A | NP_001305716.1:p.Arg753Gln | |
| NM_001318789.1:c.2258G>A | NP_001305718.1:p.Arg753Gln | |
| NM_001318790.1:c.2258G>A | NP_001305719.1:p.Arg753Gln | |
| NM_001318791.1:c.2258G>A | NP_001305720.1:p.Arg753Gln | |
| NM_001318793.1:c.2258G>A | NP_001305722.1:p.Arg753Gln | |
| NM_001318795.1:c.2258G>A | NP_001305724.1:p.Arg753Gln | |
| NM_001318796.1:c.2258G>A | NP_001305725.1:p.Arg753Gln | |
| NM_003264.4:c.2258G>A | NP_003255.2:p.Arg753Gln | |
| XM_011532215.2:c.2258G>A | XP_011530517.1:p.Arg753Gln | |
| XM_011532216.2:c.2258G>A | XP_011530518.1:p.Arg753Gln | |
| XM_017008573.1:c.2258G>A | XP_016864062.1:p.Arg753Gln | |
| XM_017008574.1:c.2258G>A | XP_016864063.1:p.Arg753Gln | |
| XM_017008575.1:c.2258G>A | XP_016864064.1:p.Arg753Gln | |
| XM_017008576.1:c.2258G>A | XP_016864065.1:p.Arg753Gln | |
| NM_001318787.2:c.2258G>A | NP_001305716.1:p.Arg753Gln | |
| NM_001318789.2:c.2258G>A MANE Select | NP_001305718.1:p.Arg753Gln | |
| NM_001318790.2:c.2258G>A | NP_001305719.1:p.Arg753Gln | |
| NM_001318791.2:c.2258G>A | NP_001305720.1:p.Arg753Gln | |
| NM_001318793.2:c.2258G>A | NP_001305722.1:p.Arg753Gln | |
| NM_001318795.2:c.2258G>A | NP_001305724.1:p.Arg753Gln | |
| NM_001318796.2:c.2258G>A | NP_001305725.1:p.Arg753Gln | |
| NM_003264.5:c.2258G>A | NP_003255.2:p.Arg753Gln |