Linked Data
ClinVar Variation Id:
2775920
ClinVar RCV Id:
RCV003607610
gnomAD v4:
3-120638561-T-C
MyVariant Identifiers:
chr3:g.120357408T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120638561T>C , CM000665.2:g.120638561T>C | GRCh38 |
| NC_000003.11:g.120357408T>C , CM000665.1:g.120357408T>C | GRCh37 |
| NC_000003.10:g.121840098T>C | NCBI36 |
| NG_011957.1:g.48921A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.900A>G MANE Select | ENSP00000283871.5:p.Val300= | |
| ENST00000283871.9:c.900A>G | ENSP00000283871.5:p.Val300= | |
| ENST00000470321.1:n.240A>G | ||
| ENST00000475447.2:c.307+3028A>G | ||
| ENST00000492108.5:c.285+3028A>G | ENSP00000419838.1:n.285+3028A>G | |
| ENST00000494453.1:c.320A>G | ||
| NM_000187.3:c.900A>G | NP_000178.2:p.Val300= | |
| XM_005247412.1:c.675A>G | XP_005247469.1:p.Val225= | |
| XM_005247413.1:c.900A>G | XP_005247470.1:p.Val300= | |
| XM_011512746.1:c.879+3028A>G | XP_011511048.1:n.879+3028A>G | |
| XM_005247412.2:c.675A>G | XP_005247469.1:p.Val225= | |
| XM_005247413.2:c.900A>G | XP_005247470.1:p.Val300= | |
| XM_011512746.2:c.879+3028A>G | XP_011511048.1:n.879+3028A>G | |
| XM_017006277.2:c.477A>G | XP_016861766.1:p.Val159= | |
| NM_000187.4:c.900A>G MANE Select | NP_000178.2:p.Val300= |