Linked Data
ClinVar Variation Id:
3012275
ClinVar RCV Id:
RCV003875402
gnomAD v4:
1-231265327-A-G
MyVariant Identifiers:
chr1:g.231401073A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231265327A>G , CM000663.2:g.231265327A>G | GRCh38 |
| NC_000001.10:g.231401073A>G , CM000663.1:g.231401073A>G | GRCh37 |
| NC_000001.9:g.229467696A>G | NCBI36 |
| NG_008240.1:g.29155A>G | |
| NG_008240.2:g.29155A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.603A>G MANE Select | ENSP00000355607.4:p.Leu201= | |
| ENST00000644483.1:c.*289A>G | ENSP00000496537.1:n.*289A>G | |
| ENST00000366647.8:c.603A>G | ENSP00000355607.4:p.Leu201= | |
| ENST00000416000.1:c.573A>G | ENSP00000411640.1:p.Leu191= | |
| ENST00000436239.5:c.420A>G | ENSP00000402811.1:p.Leu140= | |
| NM_001316350.1:c.420A>G | NP_001303279.1:p.Leu140= | |
| NM_014236.3:c.603A>G | NP_055051.1:p.Leu201= | |
| XM_005273313.3:c.600A>G | XP_005273370.1:p.Leu200= | |
| XM_011544303.1:c.276A>G | XP_011542605.1:p.Leu92= | |
| XM_011544304.1:c.276A>G | XP_011542606.1:p.Leu92= | |
| XM_005273313.4:c.600A>G | XP_005273370.1:p.Leu200= | |
| XM_011544303.3:c.276A>G | XP_011542605.1:p.Leu92= | |
| XM_011544304.2:c.276A>G | XP_011542606.1:p.Leu92= | |
| NM_014236.4:c.603A>G MANE Select | NP_055051.1:p.Leu201= | |
| NM_001316350.2:c.420A>G | NP_001303279.1:p.Leu140= |