Linked Data
dbSNP Id:
rs929257024
gnomAD v2:
8-8722247-G-C
gnomAD v3:
8-8864737-G-C
gnomAD v4:
8-8864737-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.8864737G>C , CM000670.2:g.8864737G>C | GRCh38 |
| NC_000008.10:g.8722247G>C , CM000670.1:g.8722247G>C | GRCh37 |
| NC_000008.9:g.8759657G>C | NCBI36 |
| NG_009444.1:g.33885C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276282.7:c.2998+25324C>G MANE Select | ENSP00000276282.6:n.2998+25324C>G | |
| ENST00000276282.6:c.2998+25324C>G | ENSP00000276282.6:n.2998+25324C>G | |
| NM_004225.2:c.2998+25324C>G | NP_004216.2:n.2998+25324C>G | |
| XR_246634.2:n.3534+25324C>G | ||
| XM_024447330.1:c.2998+25324C>G | XP_024303098.1:n.2998+25324C>G | |
| NM_004225.3:c.2998+25324C>G MANE Select | NP_004216.2:n.2998+25324C>G |