Linked Data
ClinVar Variation Id:
1254491
ClinVar RCV Id:
RCV001665416
dbSNP Id:
rs35256655
ExAC:
12:50500700 G / A
gnomAD v2:
12-50500700-G-A
gnomAD v3:
12-50106917-G-A
gnomAD v4:
12-50106917-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50106917G>A , CM000674.2:g.50106917G>A | GRCh38 |
| NC_000012.11:g.50500700G>A , CM000674.1:g.50500700G>A | GRCh37 |
| NC_000012.10:g.48786967G>A | NCBI36 |
| NG_032168.1:g.8099G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301149.8:c.612G>A MANE Select | ENSP00000301149.3:p.Lys204= | |
| ENST00000301149.7:c.612G>A | ENSP00000301149.3:p.Lys204= | |
| ENST00000547190.5:n.655G>A | ||
| ENST00000548152.1:n.544G>A | ||
| ENST00000548814.1:c.543G>A | ENSP00000446768.1:p.Lys181= | |
| NM_001257199.1:c.543G>A | NP_001244128.1:p.Lys181= | |
| NM_005276.3:c.612G>A | NP_005267.2:p.Lys204= | |
| NM_005276.4:c.612G>A MANE Select | NP_005267.2:p.Lys204= | |
| NM_001257199.2:c.543G>A | NP_001244128.1:p.Lys181= |