Linked Data
ClinVar Variation Id:
2983436
ClinVar RCV Id:
RCV003848051
gnomAD v4:
1-100235444-A-C
MyVariant Identifiers:
chr1:g.100701000A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100235444A>C , CM000663.2:g.100235444A>C | GRCh38 |
| NC_000001.10:g.100701000A>C , CM000663.1:g.100701000A>C | GRCh37 |
| NC_000001.9:g.100473588A>C | NCBI36 |
| NG_011852.2:g.19410T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.243T>G | ENSP00000505544.1:p.Val81= | |
| ENST00000681780.1:c.-301T>G | ENSP00000505780.1:n.-301T>G | |
| ENST00000370131.3:c.243T>G | ENSP00000359150.3:p.Val81= | |
| ENST00000370132.8:c.243T>G MANE Select | ENSP00000359151.3:p.Val81= | |
| NM_001918.3:c.243T>G | NP_001909.3:p.Val81= | |
| XM_005270545.2:c.-301T>G | XP_005270602.1:n.-301T>G | |
| XM_005270546.2:c.-119T>G | XP_005270603.1:n.-119T>G | |
| XR_946560.1:n.263T>G | ||
| XM_005270545.4:c.-301T>G | XP_005270602.1:n.-301T>G | |
| XM_017000468.2:c.-301T>G | XP_016855957.1:n.-301T>G | |
| XM_017000469.2:c.-119T>G | XP_016855958.1:n.-119T>G | |
| XR_946560.3:n.260T>G | ||
| NM_001918.4:c.243T>G | NP_001909.3:p.Val81= | |
| NM_001918.5:c.243T>G MANE Select | NP_001909.4:p.Val81= | |
| NM_001399969.1:c.-301T>G | NP_001386898.1:n.-301T>G | |
| NM_001399972.1:c.-301T>G | NP_001386901.1:n.-301T>G | |
| NR_174363.1:n.257T>G | ||
| NR_174364.1:n.257T>G | ||
| NR_174365.1:n.257T>G | ||
| NR_174366.1:n.257T>G |