Linked Data
ClinVar Variation Id:
877491
dbSNP Id:
rs563142074
ExAC:
10:50678883 T / C
gnomAD v2:
10-50678883-T-C
gnomAD v3:
10-49470837-T-C
gnomAD v4:
10-49470837-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470837T>C , CM000672.2:g.49470837T>C | GRCh38 |
| NC_000010.10:g.50678883T>C , CM000672.1:g.50678883T>C | GRCh37 |
| NC_000010.9:g.50348889T>C | NCBI36 |
| NG_009442.1:g.73265A>G , LRG_465:g.73265A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3123A>G MANE Select | ENSP00000348089.5:p.Gln1041= | |
| ENST00000679552.1:n.194A>G | ||
| ENST00000679871.1:n.269A>G | ||
| ENST00000679974.1:n.172A>G | ||
| ENST00000681632.1:n.4526A>G | ||
| ENST00000681659.1:c.2964A>G | ENSP00000505631.1:p.Gln988= | |
| ENST00000355832.9:c.3123A>G | ENSP00000348089.5:p.Gln1041= | |
| ENST00000623073.3:c.*1419A>G | ENSP00000485650.1:n.*1419A>G | |
| ENST00000623115.3:c.1233A>G | ENSP00000485321.1:p.Gln411= | |
| ENST00000624341.3:c.955A>G | ||
| NM_000124.3:c.3123A>G | NP_000115.1:p.Gln1041= | |
| XR_945953.1:n.243-728T>C | ||
| NM_001346440.1:c.3123A>G | NP_001333369.1:p.Gln1041= | |
| NM_000124.4:c.3123A>G MANE Select | NP_000115.1:p.Gln1041= | |
| NM_001346440.2:c.3123A>G | NP_001333369.1:p.Gln1041= |