Linked Data
ClinVar Variation Id:
323274
ClinVar RCV Id:
RCV000263356
dbSNP Id:
rs143895719
gnomAD v2:
17-40556510-G-C
gnomAD v3:
17-42404492-G-C
gnomAD v4:
17-42404492-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404492G>C , CM000679.2:g.42404492G>C | GRCh38 |
| NC_000017.10:g.40556510G>C , CM000679.1:g.40556510G>C | GRCh37 |
| NC_000017.9:g.37810036G>C | NCBI36 |
| NG_015845.1:g.23829C>G | |
| NG_015845.2:g.23829C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.*195C>G MANE Select | ENSP00000349541.4:n.*195C>G | |
| ENST00000357037.5:c.*195C>G | ENSP00000349541.4:n.*195C>G | |
| NM_012232.5:c.*195C>G | NP_036364.2:n.*195C>G | |
| NM_012232.6:c.*195C>G MANE Select | NP_036364.2:n.*195C>G |