Linked Data
ClinVar Variation Id:
1631651
ClinVar RCV Id:
RCV002128131
dbSNP Id:
rs1383085103
gnomAD v2:
3-81720048-G-A
gnomAD v4:
3-81670897-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670897G>A , CM000665.2:g.81670897G>A | GRCh38 |
| NC_000003.11:g.81720048G>A , CM000665.1:g.81720048G>A | GRCh37 |
| NC_000003.10:g.81802738G>A | NCBI36 |
| NG_011810.1:g.95904C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.370C>T MANE Select | ENSP00000410833.2:p.Leu124= | |
| ENST00000429644.6:c.370C>T | ENSP00000410833.2:p.Leu124= | |
| ENST00000477426.1:n.86C>T | ||
| ENST00000489715.1:c.247C>T | ENSP00000419638.1:p.Leu83= | |
| NM_000158.3:c.370C>T | NP_000149.3:p.Leu124= | |
| NM_000158.4:c.370C>T MANE Select | NP_000149.4:p.Leu124= |