Linked Data
ClinVar Variation Id:
2442773
ClinVar RCV Id:
RCV003149545
dbSNP Id:
rs567369598
ExAC:
3:191093071 T / G
gnomAD v2:
3-191093071-T-G
gnomAD v3:
3-191375282-T-G
gnomAD v4:
3-191375282-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191375282T>G , CM000665.2:g.191375282T>G | GRCh38 |
| NC_000003.11:g.191093071T>G , CM000665.1:g.191093071T>G | GRCh37 |
| NC_000003.10:g.192575765T>G | NCBI36 |
| NG_008994.1:g.51198T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.669T>G MANE Select | ENSP00000376249.4:p.His223Gln | |
| ENST00000392456.4:c.449-4877T>G | ENSP00000376250.4:n.449-4877T>G | |
| ENST00000392455.7:c.449-4877T>G | ENSP00000376249.3:n.449-4877T>G | |
| ENST00000392456.3:c.669T>G | ENSP00000376250.3:p.His223Gln | |
| NM_174908.3:c.449-4877T>G | NP_777568.1:n.449-4877T>G | |
| NM_178335.2:c.669T>G | NP_848018.1:p.His223Gln | |
| XM_011512460.1:c.669T>G | XP_011510762.1:p.His223Gln | |
| NM_178335.3:c.669T>G MANE Select | NP_848018.1:p.His223Gln | |
| NM_174908.4:c.449-4877T>G | NP_777568.1:n.449-4877T>G |