Linked Data
dbSNP Id:
rs779378898
ExAC:
12:53823709 C / G
gnomAD v2:
12-53823709-C-G
gnomAD v4:
12-53429925-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53429925C>G , CM000674.2:g.53429925C>G | GRCh38 |
| NC_000012.11:g.53823709C>G , CM000674.1:g.53823709C>G | GRCh37 |
| NC_000012.10:g.52109976C>G | NCBI36 |
| NG_015981.1:g.11071C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257863.9:c.1235C>G MANE Select | ENSP00000257863.3:p.Ser412Cys | |
| ENST00000257863.8:c.1235C>G | ENSP00000257863.3:p.Ser412Cys | |
| ENST00000379791.7:c.1140+300C>G | ENSP00000369117.3:n.1140+300C>G | |
| ENST00000550311.5:c.1235C>G | ENSP00000446661.1:p.Ser412Cys | |
| ENST00000550839.1:c.326C>G | ENSP00000455338.1:p.Ser109Cys | |
| ENST00000552233.5:n.823C>G | ||
| NM_001164690.1:c.1235C>G | NP_001158162.1:p.Ser412Cys | |
| NM_001164691.1:c.1140+300C>G | NP_001158163.1:n.1140+300C>G | |
| NM_020547.2:c.1235C>G | NP_065434.1:p.Ser412Cys | |
| XM_011538173.1:c.1295C>G | XP_011536475.1:p.Ser432Cys | |
| XM_011538174.1:c.1292C>G | XP_011536476.1:p.Ser431Cys | |
| XM_011538175.1:c.1277C>G | XP_011536477.1:p.Ser426Cys | |
| XM_011538176.1:c.1238C>G | XP_011536478.1:p.Ser413Cys | |
| XM_011538177.1:c.1217C>G | XP_011536479.1:p.Ser406Cys | |
| XM_011538178.1:c.1076C>G | XP_011536480.1:p.Ser359Cys | |
| XM_011538179.1:c.1200+300C>G | XP_011536481.1:n.1200+300C>G | |
| XM_011538180.1:c.962C>G | XP_011536482.1:p.Ser321Cys | |
| XM_011538181.1:c.959C>G | XP_011536483.1:p.Ser320Cys | |
| XM_011538182.1:c.884C>G | XP_011536484.1:p.Ser295Cys | |
| XM_011538183.1:c.1201-221C>G | XP_011536485.1:n.1201-221C>G | |
| XM_011538184.1:c.1220+280C>G | XP_011536486.1:n.1220+280C>G | |
| XM_011538185.1:c.856-1252C>G | XP_011536487.1:n.856-1252C>G | |
| XM_011538186.1:c.410C>G | XP_011536488.1:p.Ser137Cys | |
| NM_001164690.2:c.1235C>G | NP_001158162.1:p.Ser412Cys | |
| NM_001164691.2:c.1140+300C>G | NP_001158163.1:n.1140+300C>G | |
| NM_020547.3:c.1235C>G MANE Select | NP_065434.1:p.Ser412Cys | |
| XM_011538183.2:c.1201-221C>G | XP_011536485.1:n.1201-221C>G | |
| XM_011538184.2:c.1220+280C>G | XP_011536486.1:n.1220+280C>G | |
| XM_011538186.3:c.410C>G | XP_011536488.1:p.Ser137Cys | |
| XM_017019179.2:c.1295C>G | XP_016874668.1:p.Ser432Cys | |
| XM_024448938.1:c.1143+300C>G | XP_024304706.1:n.1143+300C>G | |
| XR_002957309.1:n.1203C>G | ||
| XR_002957310.1:n.1109-221C>G | ||
| XR_002957311.1:n.1203C>G | ||
| XR_002957312.1:n.1108+300C>G |