Linked Data
ClinVar Variation Id:
761975
dbSNP Id:
rs1337602604
gnomAD v3:
1-17044877-T-C
gnomAD v4:
1-17044877-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044877T>C , CM000663.2:g.17044877T>C | GRCh38 |
| NC_000001.10:g.17371372T>C , CM000663.1:g.17371372T>C | GRCh37 |
| NC_000001.9:g.17243959T>C | NCBI36 |
| NG_012340.1:g.14294A>G , LRG_316:g.14294A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-88A>G | ENSP00000481376.2:n.-88A>G | |
| ENST00000491274.6:c.42A>G | ENSP00000480482.2:p.Gly14= | |
| ENST00000375499.8:c.84A>G MANE Select | ENSP00000364649.3:p.Gly28= | |
| ENST00000375499.7:c.84A>G | ENSP00000364649.3:p.Gly28= | |
| ENST00000463045.2:c.-88A>G | ENSP00000481376.1:n.-88A>G | |
| ENST00000466613.2:n.96A>G | ||
| ENST00000475506.1:n.1A>G | ||
| ENST00000485515.5:n.72A>G | ||
| ENST00000491274.5:c.42A>G | ENSP00000480482.1:p.Gly14= | |
| NM_003000.2:c.84A>G , LRG_316t1:c.84A>G | NP_002991.2:p.Gly28= | |
| NM_003000.3:c.84A>G MANE Select | NP_002991.2:p.Gly28= |