Linked Data
dbSNP Id:
rs1874894418
gnomAD v3:
12-69353553-A-G
gnomAD v4:
12-69353553-A-G
MyVariant Identifiers:
chr12:g.69747333A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353553A>G , CM000674.2:g.69353553A>G | GRCh38 |
| NC_000012.11:g.69747333A>G , CM000674.1:g.69747333A>G | GRCh37 |
| NC_000012.10:g.68033600A>G | NCBI36 |
| NG_008195.1:g.10200A>G , LRG_768:g.10200A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*334A>G MANE Select | ENSP00000261267.2:n.*334A>G | |
| ENST00000261267.6:c.*334A>G | ENSP00000261267.2:n.*334A>G | |
| NM_000239.2:c.*334A>G , LRG_768t1:c.*334A>G | NP_000230.1:n.*334A>G | |
| NM_000239.3:c.*334A>G MANE Select | NP_000230.1:n.*334A>G |