Linked Data
ClinVar Variation Id:
300001
dbSNP Id:
rs192242583
gnomAD v2:
10-50664624-G-A
gnomAD v3:
10-49456578-G-A
gnomAD v4:
10-49456578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49456578G>A , CM000672.2:g.49456578G>A | GRCh38 |
| NC_000010.10:g.50664624G>A , CM000672.1:g.50664624G>A | GRCh37 |
| NC_000010.9:g.50334630G>A | NCBI36 |
| NG_009442.1:g.87524C>T , LRG_465:g.87524C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.*2237C>T MANE Select | ENSP00000348089.5:n.*2237C>T | |
| ENST00000679552.1:n.4928C>T | ||
| ENST00000679871.1:n.3865C>T | ||
| ENST00000679974.1:n.3768C>T | ||
| ENST00000681632.1:n.8122C>T | ||
| ENST00000681659.1:c.*2237C>T | ENSP00000505631.1:n.*2237C>T | |
| ENST00000355832.9:c.*2237C>T | ENSP00000348089.5:n.*2237C>T | |
| ENST00000624341.3:c.4551C>T | ||
| NM_000124.3:c.*2237C>T | NP_000115.1:n.*2237C>T | |
| XR_945953.1:n.243-14987G>A | ||
| NM_001346440.1:c.*2237C>T | NP_001333369.1:n.*2237C>T | |
| NM_000124.4:c.*2237C>T MANE Select | NP_000115.1:n.*2237C>T | |
| NM_001346440.2:c.*2237C>T | NP_001333369.1:n.*2237C>T |