Linked Data
dbSNP Id:
rs1352966529
gnomAD v2:
12-351795-G-C
gnomAD v3:
12-242629-G-C
gnomAD v4:
12-242629-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.242629G>C , CM000674.2:g.242629G>C | GRCh38 |
| NC_000012.11:g.351795G>C , CM000674.1:g.351795G>C | GRCh37 |
| NC_000012.10:g.222056G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343164.9:c.463C>G MANE Select | ENSP00000339260.4:p.His155Asp | |
| ENST00000343164.8:c.463C>G | ENSP00000339260.4:p.His155Asp | |
| ENST00000445055.6:c.203-4619C>G | ENSP00000407104.2:n.203-4619C>G | |
| ENST00000536842.5:n.516C>G | ||
| ENST00000539260.1:c.*102C>G | ENSP00000437386.1:n.*102C>G | |
| ENST00000542272.5:c.106C>G | ENSP00000443466.1:p.His36Asp | |
| ENST00000546319.5:c.203-4619C>G | ENSP00000444606.1:n.203-4619C>G | |
| NM_001190997.2:c.203-4619C>G | NP_001177926.1:n.203-4619C>G | |
| NM_016615.4:c.463C>G | NP_057699.2:p.His155Asp | |
| XM_005253749.2:c.529C>G | XP_005253806.1:p.His177Asp | |
| XM_011521012.1:c.106C>G | XP_011519314.1:p.His36Asp | |
| XM_011521013.1:c.-197C>G | XP_011519315.1:n.-197C>G | |
| XM_011521014.1:c.-197C>G | XP_011519316.1:n.-197C>G | |
| XM_011521012.2:c.106C>G | XP_011519314.1:p.His36Asp | |
| XM_017019844.1:c.463C>G | XP_016875333.1:p.His155Asp | |
| XM_017019846.1:c.463C>G | XP_016875335.1:p.His155Asp | |
| XM_017019847.1:c.463C>G | XP_016875336.1:p.His155Asp | |
| XR_001748849.1:n.516C>G | ||
| XR_002957372.1:n.516C>G | ||
| NM_016615.5:c.463C>G MANE Select | NP_057699.2:p.His155Asp | |
| NM_001190997.3:c.203-4619C>G | NP_001177926.1:n.203-4619C>G |