Linked Data
dbSNP Id:
rs4601728
gnomAD v2:
11-92705158-A-G
gnomAD v3:
11-92971992-A-G
gnomAD v4:
11-92971992-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.92971992A>G , CM000673.2:g.92971992A>G | GRCh38 |
| NC_000011.9:g.92705158A>G , CM000673.1:g.92705158A>G | GRCh37 |
| NC_000011.8:g.92344806A>G | NCBI36 |
| NG_028160.1:g.7370A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257068.3:c.223+2044A>G MANE Select | ENSP00000257068.2:n.223+2044A>G | |
| ENST00000257068.2:c.223+2044A>G | ENSP00000257068.2:n.223+2044A>G | |
| ENST00000528076.1:c.165+2044A>G | ||
| ENST00000532482.1:c.224-469A>G | ENSP00000436101.1:n.224-469A>G | |
| NM_005959.3:c.223+2044A>G | NP_005950.1:n.223+2044A>G | |
| XM_011542839.1:c.223+2044A>G | XP_011541141.1:n.223+2044A>G | |
| XM_011542839.2:c.223+2044A>G | XP_011541141.1:n.223+2044A>G | |
| NM_005959.5:c.223+2044A>G MANE Select | NP_005950.1:n.223+2044A>G |