Linked Data
ClinVar Variation Id:
772227
ClinVar RCV Id:
RCV000951722
dbSNP Id:
rs1435101199
gnomAD v2:
4-4864567-G-C
gnomAD v3:
4-4862840-G-C
gnomAD v4:
4-4862840-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862840G>C , CM000666.2:g.4862840G>C | GRCh38 |
| NC_000004.11:g.4864567G>C , CM000666.1:g.4864567G>C | GRCh37 |
| NC_000004.10:g.4915468G>C | NCBI36 |
| NG_008121.1:g.8176G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.609G>C MANE Select | ENSP00000372170.4:p.Ala203= | |
| ENST00000382723.4:c.609G>C | ENSP00000372170.4:p.Ala203= | |
| ENST00000468421.1:n.321G>C | ||
| NM_002448.3:c.609G>C MANE Select | NP_002439.2:p.Ala203= |