Linked Data
ClinVar Variation Id:
417983
ClinVar RCV Id:
RCV000481017
dbSNP Id:
rs1064793007
gnomAD v4:
1-94056801-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056801T>C , CM000663.2:g.94056801T>C | GRCh38 |
| NC_000001.10:g.94522357T>C , CM000663.1:g.94522357T>C | GRCh37 |
| NC_000001.9:g.94294945T>C | NCBI36 |
| NG_009073.1:g.69349A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.2182A>G MANE Select | ENSP00000359245.3:p.Ser728Gly | |
| ENST00000649773.1:c.2161-1486A>G | ENSP00000496882.1:n.2161-1486A>G | |
| ENST00000370225.3:c.2182A>G | ENSP00000359245.3:p.Ser728Gly | |
| ENST00000536513.5:c.-65+6373A>G | ENSP00000439707.2:n.-65+6373A>G | |
| NM_000350.2:c.2182A>G | NP_000341.2:p.Ser728Gly | |
| NM_000350.3:c.2182A>G MANE Select | NP_000341.2:p.Ser728Gly |