Linked Data
ClinVar Variation Id:
180494
dbSNP Id:
rs730880192
ExAC:
1:237777848 G / A
gnomAD v2:
1-237777848-G-A
gnomAD v3:
1-237614548-G-A
gnomAD v4:
1-237614548-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237614548G>A , CM000663.2:g.237614548G>A | GRCh38 |
| NC_000001.10:g.237777848G>A , CM000663.1:g.237777848G>A | GRCh37 |
| NC_000001.9:g.235844471G>A | NCBI36 |
| NG_008799.2:g.577147G>A | |
| NG_008799.3:g.577365G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.5420G>A | ENSP00000499659.2:p.Arg1807Gln | |
| ENST00000659194.3:c.5420G>A | ENSP00000499653.3:p.Arg1807Gln | |
| ENST00000660292.2:c.5420G>A | ENSP00000499787.2:p.Arg1807Gln | |
| ENST00000366574.7:c.5420G>A MANE Select | ENSP00000355533.2:p.Arg1807Gln | |
| ENST00000360064.7:c.5372G>A | ENSP00000353174.7:p.Arg1791Gln | |
| ENST00000366574.6:c.5420G>A | ENSP00000355533.2:p.Arg1807Gln | |
| NM_001035.2:c.5420G>A | NP_001026.2:p.Arg1807Gln | |
| XM_006711802.2:c.5450G>A | XP_006711865.1:p.Arg1817Gln | |
| XM_006711803.2:c.5447G>A | XP_006711866.1:p.Arg1816Gln | |
| XM_006711804.2:c.5450G>A | XP_006711867.1:p.Arg1817Gln | |
| XM_006711805.2:c.5420G>A | XP_006711868.1:p.Arg1807Gln | |
| XM_006711806.2:c.5450G>A | XP_006711869.1:p.Arg1817Gln | |
| XM_006711807.2:c.5450G>A | XP_006711870.1:p.Arg1817Gln | |
| XM_006711808.2:c.5450G>A | XP_006711871.1:p.Arg1817Gln | |
| XM_006711809.2:c.5450G>A | XP_006711872.1:p.Arg1817Gln | |
| XM_006711810.2:c.5417G>A | XP_006711873.1:p.Arg1806Gln | |
| XR_949152.1:n.5731G>A | ||
| XM_006711802.3:c.5450G>A | XP_006711865.1:p.Arg1817Gln | |
| XM_006711803.3:c.5447G>A | XP_006711866.1:p.Arg1816Gln | |
| XM_006711804.3:c.5450G>A | XP_006711867.1:p.Arg1817Gln | |
| XM_006711805.3:c.5420G>A | XP_006711868.1:p.Arg1807Gln | |
| XM_006711806.3:c.5450G>A | XP_006711869.1:p.Arg1817Gln | |
| XM_006711807.3:c.5450G>A | XP_006711870.1:p.Arg1817Gln | |
| XM_006711808.3:c.5450G>A | XP_006711871.1:p.Arg1817Gln | |
| XM_006711810.3:c.5417G>A | XP_006711873.1:p.Arg1806Gln | |
| XM_017002028.1:c.5429G>A | XP_016857517.1:p.Arg1810Gln | |
| XR_002957299.1:n.5764G>A | ||
| XR_949152.2:n.5764G>A | ||
| NM_001035.3:c.5420G>A MANE Select | NP_001026.2:p.Arg1807Gln |