Linked Data
ClinVar Variation Id:
2153249
ClinVar RCV Id:
RCV003085566
dbSNP Id:
rs776806910
ExAC:
3:81627160 C / G
gnomAD v2:
3-81627160-C-G
gnomAD v4:
3-81578009-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81578009C>G , CM000665.2:g.81578009C>G | GRCh38 |
| NC_000003.11:g.81627160C>G , CM000665.1:g.81627160C>G | GRCh37 |
| NC_000003.10:g.81709850C>G | NCBI36 |
| NG_011810.1:g.188792G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429644.7:c.1534G>C MANE Select | ENSP00000410833.2:p.Val512Leu | |
| ENST00000429644.6:c.1534G>C | ENSP00000410833.2:p.Val512Leu | |
| ENST00000489715.1:c.1411G>C | ENSP00000419638.1:p.Val471Leu | |
| NM_000158.3:c.1534G>C | NP_000149.3:p.Val512Leu | |
| NM_000158.4:c.1534G>C MANE Select | NP_000149.4:p.Val512Leu |