Linked Data
dbSNP Id:
rs888316336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345738C>G , CM000665.2:g.50345738C>G | GRCh38 |
| NC_000003.11:g.50383169C>G , CM000665.1:g.50383169C>G | GRCh37 |
| NC_000003.10:g.50358173C>G | NCBI36 |
| NG_023270.1:g.199G>C | |
| NG_042828.1:g.5009G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.7:c.-159G>C | ENSP00000231749.3:n.-159G>C | |
| NM_001308379.1:c.-159G>C | NP_001295308.1:n.-159G>C | |
| NM_015896.3:c.-159G>C | NP_056980.2:n.-159G>C | |
| XM_005265216.2:c.-287G>C | XP_005265273.1:n.-287G>C |