Linked Data
ClinVar Variation Id:
1684963
ClinVar RCV Id:
RCV002248055
dbSNP Id:
rs199674295
ExAC:
2:157186391 T / C
gnomAD v2:
2-157186391-T-C
gnomAD v4:
2-156329879-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156329879T>C , CM000664.2:g.156329879T>C | GRCh38 |
| NC_000002.11:g.157186391T>C , CM000664.1:g.157186391T>C | GRCh37 |
| NC_000002.10:g.156894637T>C | NCBI36 |
| NG_011821.1:g.7897A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421709.2:c.119A>G | ENSP00000388120.2:p.His40Arg | |
| ENST00000700228.1:c.179A>G | ENSP00000514865.1:p.His60Arg | |
| ENST00000700231.1:c.308A>G | ENSP00000514868.1:p.His103Arg | |
| ENST00000339562.9:c.308A>G MANE Select | ENSP00000344479.4:p.His103Arg | |
| ENST00000675870.1:c.119A>G | ENSP00000502739.1:p.His40Arg | |
| ENST00000339562.8:c.308A>G | ENSP00000344479.4:p.His103Arg | |
| ENST00000406048.2:c.208+35A>G | ||
| ENST00000409108.6:c.308A>G | ENSP00000386993.2:p.His103Arg | |
| ENST00000409572.5:c.308A>G | ENSP00000386747.1:p.His103Arg | |
| ENST00000417764.5:c.119A>G | ENSP00000415632.1:p.His40Arg | |
| ENST00000417972.5:c.119A>G | ENSP00000394671.1:p.His40Arg | |
| ENST00000421709.1:c.119A>G | ENSP00000388120.1:p.His40Arg | |
| ENST00000424077.1:c.308A>G | ENSP00000406808.1:p.His103Arg | |
| ENST00000426264.5:c.119A>G | ENSP00000389986.1:p.His40Arg | |
| ENST00000429376.5:c.119A>G | ENSP00000410952.1:p.His40Arg | |
| NM_006186.3:c.308A>G | NP_006177.1:p.His103Arg | |
| XM_005246621.2:c.341A>G | XP_005246678.1:p.His114Arg | |
| XM_005246622.2:c.119A>G | XP_005246679.1:p.His40Arg | |
| XM_005246623.1:c.119A>G | XP_005246680.1:p.His40Arg | |
| XM_006712553.2:c.341A>G | XP_006712616.1:p.His114Arg | |
| XM_011511246.1:c.341A>G | XP_011509548.1:p.His114Arg | |
| XR_427087.2:n.2514A>G | ||
| NM_173173.2:c.119A>G | NP_775265.1:p.His40Arg | |
| XM_005246621.4:c.341A>G | XP_005246678.1:p.His114Arg | |
| XM_006712553.4:c.341A>G | XP_006712616.1:p.His114Arg | |
| XM_011511246.2:c.341A>G | XP_011509548.1:p.His114Arg | |
| XM_017004219.2:c.308A>G | XP_016859708.1:p.His103Arg | |
| XM_017004220.2:c.308A>G | XP_016859709.1:p.His103Arg | |
| XR_001738751.2:n.676A>G | ||
| XR_001738752.2:n.498A>G | ||
| XR_427087.4:n.555A>G | ||
| NM_006186.4:c.308A>G MANE Select | NP_006177.1:p.His103Arg | |
| NM_173173.3:c.119A>G | NP_775265.1:p.His40Arg |