Linked Data
ClinVar Variation Id:
1147058
ClinVar RCV Id:
RCV001486463
dbSNP Id:
rs2125468817
MyVariant Identifiers:
chr1:g.197390143A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421013A>G , CM000663.2:g.197421013A>G | GRCh38 |
| NC_000001.10:g.197390143A>G , CM000663.1:g.197390143A>G | GRCh37 |
| NC_000001.9:g.195656766A>G | NCBI36 |
| NG_008483.1:g.157736A>G | |
| NG_008483.2:g.224552A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1185A>G MANE Select | ENSP00000356370.3:p.Glu395= | |
| ENST00000638467.1:c.1185A>G | ENSP00000491102.1:p.Glu395= | |
| ENST00000681519.1:c.66A>G | ENSP00000505267.1:p.Glu22= | |
| ENST00000367397.1:c.-673A>G | ENSP00000356367.1:n.-673A>G | |
| ENST00000367399.6:c.849A>G | ENSP00000356369.2:p.Glu283= | |
| ENST00000367400.7:c.1185A>G | ENSP00000356370.3:p.Glu395= | |
| ENST00000476483.1:n.145A>G | ||
| ENST00000484075.5:c.1185A>G | ENSP00000433932.1:p.Glu395= | |
| ENST00000535699.5:c.978A>G | ENSP00000438786.1:p.Glu326= | |
| ENST00000538660.5:c.1185A>G | ENSP00000438091.1:p.Glu395= | |
| NM_001193640.1:c.849A>G | NP_001180569.1:p.Glu283= | |
| NM_001257965.1:c.978A>G | NP_001244894.1:p.Glu326= | |
| NM_001257966.1:c.1185A>G | NP_001244895.1:p.Glu395= | |
| NM_201253.2:c.1185A>G | NP_957705.1:p.Glu395= | |
| NR_047563.1:n.1394A>G | ||
| NR_047564.1:n.1394A>G | ||
| XM_011509365.1:c.1185A>G | XP_011507667.1:p.Glu395= | |
| XM_011509366.1:c.1185A>G | XP_011507668.1:p.Glu395= | |
| XM_011509367.1:c.1185A>G | XP_011507669.1:p.Glu395= | |
| XM_011509368.1:c.603A>G | XP_011507670.1:p.Glu201= | |
| XM_011509369.1:c.-373A>G | XP_011507671.1:n.-373A>G | |
| XM_011509365.2:c.1185A>G | XP_011507667.1:p.Glu395= | |
| XM_011509369.2:c.-373A>G | XP_011507671.1:n.-373A>G | |
| XM_017000851.1:c.342A>G | XP_016856340.1:p.Glu114= | |
| XM_017000852.1:c.1185A>G | XP_016856341.1:p.Glu395= | |
| NM_201253.3:c.1185A>G MANE Select | NP_957705.1:p.Glu395= | |
| NM_001193640.2:c.849A>G | NP_001180569.1:p.Glu283= | |
| NM_001257965.2:c.978A>G | NP_001244894.1:p.Glu326= | |
| NR_047563.2:n.1346A>G | ||
| NR_047564.2:n.1346A>G | ||
| NM_001257966.2:c.1185A>G | NP_001244895.1:p.Glu395= |