Linked Data
dbSNP Id:
rs545097572
ExAC:
16:3777774 G / C
gnomAD v2:
16-3777774-G-C
gnomAD v3:
16-3727773-G-C
gnomAD v4:
16-3727773-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727773G>C , CM000678.2:g.3727773G>C | GRCh38 |
| NC_000016.9:g.3777774G>C , CM000678.1:g.3777774G>C | GRCh37 |
| NC_000016.8:g.3717775G>C | NCBI36 |
| NG_009873.1:g.157348C>G | |
| NG_009873.2:g.157941C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7274C>G MANE Select | ENSP00000262367.5:p.Ser2425Cys | |
| ENST00000262367.9:c.7274C>G | ENSP00000262367.5:p.Ser2425Cys | |
| ENST00000382070.7:c.7160C>G | ENSP00000371502.3:p.Ser2387Cys | |
| NM_001079846.1:c.7160C>G | NP_001073315.1:p.Ser2387Cys | |
| NM_004380.2:c.7274C>G | NP_004371.2:p.Ser2425Cys | |
| XM_005255124.3:c.7229C>G | XP_005255181.1:p.Ser2410Cys | |
| XM_005255125.3:c.6857C>G | XP_005255182.1:p.Ser2286Cys | |
| XM_006720848.2:c.7013C>G | XP_006720911.1:p.Ser2338Cys | |
| XM_011522380.1:c.7220C>G | XP_011520682.1:p.Ser2407Cys | |
| XM_011522381.1:c.6521C>G | XP_011520683.1:p.Ser2174Cys | |
| XM_005255124.4:c.7229C>G | XP_005255181.1:p.Ser2410Cys | |
| XM_005255125.4:c.6857C>G | XP_005255182.1:p.Ser2286Cys | |
| XM_006720848.3:c.7013C>G | XP_006720911.1:p.Ser2338Cys | |
| XM_011522381.2:c.6521C>G | XP_011520683.1:p.Ser2174Cys | |
| XM_017022944.1:c.7268C>G | XP_016878433.1:p.Ser2423Cys | |
| NM_004380.3:c.7274C>G MANE Select | NP_004371.2:p.Ser2425Cys |