Linked Data
ClinVar Variation Id:
309101
ClinVar RCV Id:
RCV000401936
dbSNP Id:
rs755199142
ExAC:
12:49484246 G / T
gnomAD v2:
12-49484246-G-T
gnomAD v4:
12-49090463-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49090463G>T , CM000674.2:g.49090463G>T | GRCh38 |
| NC_000012.11:g.49484246G>T , CM000674.1:g.49484246G>T | GRCh37 |
| NC_000012.10:g.47770513G>T | NCBI36 |
| NG_008973.1:g.9357C>A | |
| NG_008973.2:g.9357C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649637.2:c.587C>A MANE Select | ENSP00000497483.1:p.Ala196Glu | |
| ENST00000266991.2:c.587C>A | ENSP00000266991.2:p.Ala196Glu | |
| NM_021044.2:c.587C>A | NP_066382.1:p.Ala196Glu | |
| NM_021044.4:c.587C>A MANE Select | NP_066382.1:p.Ala196Glu | |
| XM_017019380.1:c.446C>A | XP_016874869.1:p.Ala149Glu | |
| XM_017019381.1:c.245C>A | XP_016874870.1:p.Ala82Glu |