Linked Data
dbSNP Id:
rs1032296319
gnomAD v2:
22-32870797-C-G
gnomAD v3:
22-32474810-C-G
gnomAD v4:
22-32474810-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32474810C>G , CM000684.2:g.32474810C>G | GRCh38 |
| NC_000022.10:g.32870797C>G , CM000684.1:g.32870797C>G | GRCh37 |
| NC_000022.9:g.31200797C>G | NCBI36 |
| NG_016001.1:g.5091C>G | |
| NG_016001.2:g.5091C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.11:c.-193C>G | ENSP00000266087.7:n.-193C>G | |
| ENST00000420700.5:c.-193C>G | ENSP00000406155.1:n.-193C>G | |
| ENST00000425028.5:c.-193C>G | ENSP00000395823.1:n.-193C>G | |
| NM_012179.3:c.-193C>G | NP_036311.3:n.-193C>G | |
| XM_011530106.1:c.-366C>G | XP_011528408.1:n.-366C>G | |
| XM_024452207.1:c.-383C>G | XP_024307975.1:n.-383C>G |