Linked Data
ClinVar Variation Id:
2962251
ClinVar RCV Id:
RCV003824881
dbSNP Id:
rs778584154
ExAC:
4:186064601 G / C
gnomAD v2:
4-186064601-G-C
gnomAD v4:
4-185143447-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143447G>C , CM000666.2:g.185143447G>C | GRCh38 |
| NC_000004.11:g.186064601G>C , CM000666.1:g.186064601G>C | GRCh37 |
| NC_000004.10:g.186301595G>C | NCBI36 |
| NG_013001.1:g.5185G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.75G>C MANE Select | ENSP00000281456.5:p.Ala25= | |
| ENST00000281456.10:c.75G>C | ENSP00000281456.5:p.Ala25= | |
| ENST00000491736.1:c.75G>C | ENSP00000476711.1:p.Ala25= | |
| NM_001151.3:c.75G>C | NP_001142.2:p.Ala25= | |
| NM_001151.4:c.75G>C MANE Select | NP_001142.2:p.Ala25= |