Linked Data
ClinVar Variation Id:
2537242
ClinVar RCV Id:
RCV004306818
dbSNP Id:
rs148505146
ExAC:
12:52946689 T / C
gnomAD v2:
12-52946689-T-C
gnomAD v3:
12-52552905-T-C
gnomAD v4:
12-52552905-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52552905T>C , CM000674.2:g.52552905T>C | GRCh38 |
| NC_000012.11:g.52946689T>C , CM000674.1:g.52946689T>C | GRCh37 |
| NC_000012.10:g.51232956T>C | NCBI36 |
| NG_012426.1:g.5243A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267119.6:c.173A>G MANE Select | ENSP00000267119.5:p.Asn58Ser | |
| ENST00000267119.5:c.173A>G | ENSP00000267119.5:p.Asn58Ser | |
| NM_033448.2:c.173A>G | NP_258259.1:p.Asn58Ser | |
| XM_017018749.1:c.-74A>G | XP_016874238.1:n.-74A>G | |
| NM_033448.3:c.173A>G MANE Select | NP_258259.1:p.Asn58Ser |