Linked Data
dbSNP Id:
rs527940893
gnomAD v2:
1-193220851-G-A
gnomAD v3:
1-193251721-G-A
gnomAD v4:
1-193251721-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251721G>A , CM000663.2:g.193251721G>A | GRCh38 |
| NC_000001.10:g.193220851G>A , CM000663.1:g.193220851G>A | GRCh37 |
| NC_000001.9:g.191487474G>A | NCBI36 |
| NG_012691.1:g.134764G>A , LRG_507:g.134764G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*1009G>A MANE Select | ENSP00000356405.4:n.*1009G>A | |
| ENST00000635846.1:c.*1009G>A | ENSP00000490035.1:n.*1009G>A | |
| ENST00000643006.1:c.*1515G>A | ENSP00000496633.1:n.*1515G>A | |
| ENST00000367435.3:c.*1009G>A | ENSP00000356405.3:n.*1009G>A | |
| NM_024529.4:c.*1009G>A , LRG_507t1:c.*1009G>A | NP_078805.3:n.*1009G>A | |
| NM_024529.5:c.*1009G>A MANE Select | NP_078805.3:n.*1009G>A |