Linked Data
ClinVar Variation Id:
2890449
ClinVar RCV Id:
RCV003627161
dbSNP Id:
rs781127002
ExAC:
12:5021234 C / A
gnomAD v2:
12-5021234-C-A
gnomAD v3:
12-4912068-C-A
gnomAD v4:
12-4912068-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912068C>A , CM000674.2:g.4912068C>A | GRCh38 |
| NC_000012.11:g.5021234C>A , CM000674.1:g.5021234C>A | GRCh37 |
| NC_000012.10:g.4891495C>A | NCBI36 |
| NG_011815.1:g.7162C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382545.5:c.690C>A MANE Select | ENSP00000371985.3:p.Ile230= | |
| ENST00000543874.3:n.105+1596C>A | ||
| ENST00000639306.1:c.528C>A | ENSP00000492506.1:p.Ile176= | |
| ENST00000382545.3:c.690C>A | ENSP00000371985.3:p.Ile230= | |
| ENST00000541095.1:n.105+1596C>A | ||
| ENST00000543874.2:n.96+1596C>A | ||
| NM_000217.2:c.690C>A | NP_000208.2:p.Ile230= | |
| NM_000217.3:c.690C>A MANE Select | NP_000208.2:p.Ile230= |