Linked Data
ClinVar Variation Id:
963646
ClinVar RCV Id:
RCV001237700
dbSNP Id:
rs1571818744
gnomAD v4:
1-161306749-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306749A>C , CM000663.2:g.161306749A>C | GRCh38 |
| NC_000001.10:g.161276539A>C , CM000663.1:g.161276539A>C | GRCh37 |
| NC_000001.9:g.159543163A>C | NCBI36 |
| NG_008055.1:g.8224T>G , LRG_256:g.8224T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.367+40T>G | ENSP00000488104.2:n.367+40T>G | |
| ENST00000533357.5:c.407T>G MANE Select | ENSP00000432943.1:p.Val136Gly | |
| ENST00000672287.2:c.-182T>G | ENSP00000499818.2:n.-182T>G | |
| ENST00000672602.2:c.407T>G | ENSP00000500814.2:p.Val136Gly | |
| ENST00000674861.1:n.470T>G | ||
| ENST00000463290.5:c.407T>G | ENSP00000431538.1:p.Val136Gly | |
| ENST00000491222.5:c.-182T>G | ENSP00000431441.1:n.-182T>G | |
| ENST00000526189.2:c.111+40T>G | ||
| ENST00000533357.4:c.407T>G | ENSP00000432943.1:p.Val136Gly | |
| NM_000530.6:c.407T>G , LRG_256t1:c.407T>G | NP_000521.2:p.Val136Gly | |
| NM_000530.7:c.407T>G | NP_000521.2:p.Val136Gly | |
| NM_001315491.1:c.407T>G | NP_001302420.1:p.Val136Gly | |
| XM_017001321.2:c.437T>G | XP_016856810.1:p.Val146Gly | |
| NM_000530.8:c.407T>G MANE Select | NP_000521.2:p.Val136Gly | |
| NM_001315491.2:c.407T>G | NP_001302420.1:p.Val136Gly |