Linked Data
dbSNP Id:
rs1044873720
gnomAD v2:
3-50383190-G-C
gnomAD v3:
3-50345759-G-C
gnomAD v4:
3-50345759-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345759G>C , CM000665.2:g.50345759G>C | GRCh38 |
| NC_000003.11:g.50383190G>C , CM000665.1:g.50383190G>C | GRCh37 |
| NC_000003.10:g.50358194G>C | NCBI36 |
| NG_023270.1:g.178C>G | |
| NG_042828.1:g.4988C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.7:c.-180C>G | ENSP00000231749.3:n.-180C>G | |
| XM_005265216.2:c.-308C>G | XP_005265273.1:n.-308C>G |