Linked Data
dbSNP Id:
rs368835906
ExAC:
8:96259836 T / C
gnomAD v2:
8-96259836-T-C
gnomAD v4:
8-95247608-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95247608T>C , CM000670.2:g.95247608T>C | GRCh38 |
| NC_000008.10:g.96259836T>C , CM000670.1:g.96259836T>C | GRCh37 |
| NC_000008.9:g.96329012T>C | NCBI36 |
| NG_032804.1:g.26627A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286688.6:c.*9A>G MANE Select | ENSP00000286688.5:n.*9A>G | |
| ENST00000286688.5:c.*9A>G | ENSP00000286688.5:n.*9A>G | |
| NM_177965.3:c.*9A>G | NP_808880.1:n.*9A>G | |
| XM_005250799.2:c.*9A>G | XP_005250856.2:n.*9A>G | |
| NM_001363260.1:c.*9A>G | NP_001350189.1:n.*9A>G | |
| NM_177965.4:c.*9A>G MANE Select | NP_808880.1:n.*9A>G |