Linked Data
dbSNP Id:
rs199976279
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754343C>G , CM000666.2:g.67754343C>G | GRCh38 |
| NC_000004.11:g.68620061C>G , CM000666.1:g.68620061C>G | GRCh37 |
| NC_000004.10:g.68302656C>G | NCBI36 |
| NG_009293.1:g.6744G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.-8G>C MANE Select | ENSP00000226413.5:n.-8G>C | |
| ENST00000226413.4:c.-8G>C | ENSP00000226413.4:n.-8G>C | |
| NM_000406.2:c.-8G>C | NP_000397.1:n.-8G>C | |
| NM_001012763.1:c.-8G>C | NP_001012781.1:n.-8G>C | |
| NM_000406.3:c.-8G>C MANE Select | NP_000397.1:n.-8G>C | |
| NM_001012763.2:c.-8G>C | NP_001012781.1:n.-8G>C |