Linked Data
ClinVar Variation Id:
2882395
ClinVar RCV Id:
RCV003624080
dbSNP Id:
rs928258340
gnomAD v2:
3-48921543-T-C
gnomAD v4:
3-48884110-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48884110T>C , CM000665.2:g.48884110T>C | GRCh38 |
| NC_000003.11:g.48921543T>C , CM000665.1:g.48921543T>C | GRCh37 |
| NC_000003.10:g.48896547T>C | NCBI36 |
| NG_008171.1:g.19787A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319017.5:c.213A>G MANE Select | ENSP00000326305.4:p.Leu71= | |
| ENST00000319017.4:c.213A>G | ENSP00000326305.4:p.Leu71= | |
| ENST00000430379.5:c.198+7870A>G | ENSP00000388986.1:n.198+7870A>G | |
| ENST00000440964.1:c.*43A>G | ENSP00000388563.1:n.*43A>G | |
| NM_000387.5:c.213A>G | NP_000378.1:p.Leu71= | |
| XM_006713327.1:c.213A>G | XP_006713390.1:p.Leu71= | |
| NM_000387.6:c.213A>G MANE Select | NP_000378.1:p.Leu71= |