Linked Data
ClinVar Variation Id:
1922612
ClinVar RCV Id:
RCV002634398
dbSNP Id:
rs199686337
gnomAD v4:
10-49461516-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461516A>G , CM000672.2:g.49461516A>G | GRCh38 |
| NC_000010.10:g.50669562A>G , CM000672.1:g.50669562A>G | GRCh37 |
| NC_000010.9:g.50339568A>G | NCBI36 |
| NG_009442.1:g.82586T>C , LRG_465:g.82586T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3819T>C MANE Select | ENSP00000348089.5:p.Asp1273= | |
| ENST00000679552.1:n.890T>C | ||
| ENST00000679871.1:n.965T>C | ||
| ENST00000679974.1:n.868T>C | ||
| ENST00000681632.1:n.5222T>C | ||
| ENST00000681659.1:c.3660T>C | ENSP00000505631.1:p.Asp1220= | |
| ENST00000355832.9:c.3819T>C | ENSP00000348089.5:p.Asp1273= | |
| ENST00000465653.1:n.141T>C | ||
| ENST00000623073.3:c.*2115T>C | ENSP00000485650.1:n.*2115T>C | |
| ENST00000623115.3:c.1929T>C | ENSP00000485321.1:p.Asp643= | |
| ENST00000624341.3:c.1651T>C | ||
| NM_000124.3:c.3819T>C | NP_000115.1:p.Asp1273= | |
| XR_945953.1:n.243-10049A>G | ||
| NM_001346440.1:c.3819T>C | NP_001333369.1:p.Asp1273= | |
| NM_000124.4:c.3819T>C MANE Select | NP_000115.1:p.Asp1273= | |
| NM_001346440.2:c.3819T>C | NP_001333369.1:p.Asp1273= |