Linked Data
dbSNP Id:
rs3094197
gnomAD v2:
6-31093485-A-G
gnomAD v3:
6-31125708-A-G
gnomAD v4:
6-31125708-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31125708A>G , CM000668.2:g.31125708A>G | GRCh38 |
| NC_000006.11:g.31093485A>G , CM000668.1:g.31093485A>G | GRCh37 |
| NC_000006.10:g.31201464A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-196A>G MANE Select | ENSP00000259881.9:n.-196A>G | |
| ENST00000259881.9:c.-196A>G | ENSP00000259881.9:n.-196A>G | |
| ENST00000479581.5:n.61+10817A>G | ||
| ENST00000548049.1:n.149A>G | ||
| ENST00000550838.1:n.59-31A>G | ||
| ENST00000552747.1:n.53+10817A>G | ||
| NM_014068.3:c.-196A>G MANE Select | NP_054787.2:n.-196A>G |