Linked Data
ClinVar Variation Id:
323067
ClinVar RCV Id:
RCV000371734
dbSNP Id:
rs4135033
gnomAD v2:
17-38458906-C-A
gnomAD v3:
17-40302654-C-A
gnomAD v4:
17-40302654-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40302654C>A , CM000679.2:g.40302654C>A | GRCh38 |
| NC_000017.10:g.38458906C>A , CM000679.1:g.38458906C>A | GRCh37 |
| NC_000017.9:g.35712432C>A | NCBI36 |
| NG_028240.1:g.19761C>A | |
| NG_028240.2:g.19776C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209728.9:c.*653C>A MANE Select | ENSP00000209728.4:n.*653C>A | |
| ENST00000209728.8:c.*653C>A | ENSP00000209728.4:n.*653C>A | |
| NM_001254.3:c.*653C>A | NP_001245.1:n.*653C>A | |
| XM_011525541.1:c.*653C>A | XP_011523843.1:n.*653C>A | |
| XM_011525542.1:c.*653C>A | XP_011523844.1:n.*653C>A | |
| NM_001254.4:c.*653C>A MANE Select | NP_001245.1:n.*653C>A | |
| XM_011525541.2:c.*653C>A | XP_011523843.1:n.*653C>A |