Linked Data
dbSNP Id:
rs970309789
gnomAD v2:
8-6735428-G-C
gnomAD v3:
8-6877906-G-C
gnomAD v4:
8-6877906-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6877906G>C , CM000670.2:g.6877906G>C | GRCh38 |
| NC_000008.10:g.6735428G>C , CM000670.1:g.6735428G>C | GRCh37 |
| NC_000008.9:g.6722838G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297439.4:c.-49C>G MANE Select | ENSP00000297439.3:n.-49C>G | |
| ENST00000297439.3:c.-49C>G | ENSP00000297439.3:n.-49C>G | |
| NM_005218.3:c.-49C>G | NP_005209.1:n.-49C>G | |
| NM_005218.4:c.-49C>G MANE Select | NP_005209.1:n.-49C>G |