Linked Data
ClinVar Variation Id:
390175
dbSNP Id:
rs752729337
ExAC:
9:138683931 C / G
gnomAD v2:
9-138683931-C-G
gnomAD v3:
9-135792085-C-G
gnomAD v4:
9-135792085-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135792085C>G , CM000671.2:g.135792085C>G | GRCh38 |
| NC_000009.11:g.138683931C>G , CM000671.1:g.138683931C>G | GRCh37 |
| NC_000009.10:g.137823752C>G | NCBI36 |
| NG_033070.1:g.94901C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371757.7:c.3632C>G MANE Select | ENSP00000360822.2:p.Ser1211Cys | |
| ENST00000674572.1:c.3536C>G | ENSP00000501742.1:p.Ser1179Cys | |
| ENST00000675090.1:c.3380C>G | ENSP00000501833.1:p.Ser1127Cys | |
| ENST00000675399.1:c.3443C>G | ENSP00000501932.1:p.Ser1148Cys | |
| ENST00000676421.1:c.3452C>G | ENSP00000502322.1:p.Ser1151Cys | |
| ENST00000263604.5:c.3596C>G | ENSP00000263604.4:p.Ser1199Cys | |
| ENST00000371757.6:c.3632C>G | ENSP00000360822.2:p.Ser1211Cys | |
| ENST00000460750.5:c.*3305C>G | ENSP00000418777.1:n.*3305C>G | |
| ENST00000475008.1:n.2938C>G | ||
| ENST00000486577.6:c.3578C>G | ENSP00000417578.3:p.Ser1193Cys | |
| ENST00000487664.5:c.3695C>G | ENSP00000417851.2:p.Ser1232Cys | |
| ENST00000488444.6:c.3617C>G | ENSP00000419007.3:p.Ser1206Cys | |
| ENST00000490355.6:c.3632C>G | ENSP00000418003.3:p.Ser1211Cys | |
| ENST00000491806.6:c.3575C>G | ENSP00000419086.3:p.Ser1192Cys | |
| ENST00000628528.2:c.3560C>G | ENSP00000486374.1:p.Ser1187Cys | |
| ENST00000630792.2:c.3530C>G | ENSP00000486486.1:p.Ser1177Cys | |
| ENST00000631073.2:c.3638C>G | ENSP00000486130.1:p.Ser1213Cys | |
| NM_001272003.1:c.3560C>G | NP_001258932.1:p.Ser1187Cys | |
| NM_020822.2:c.3632C>G | NP_065873.2:p.Ser1211Cys | |
| XM_011518877.1:c.3830C>G | XP_011517179.1:p.Ser1277Cys | |
| XM_011518878.1:c.3776C>G | XP_011517180.1:p.Ser1259Cys | |
| XM_011518879.1:c.3767C>G | XP_011517181.1:p.Ser1256Cys | |
| XM_011518880.1:c.3596C>G | XP_011517182.1:p.Ser1199Cys | |
| XM_011518881.1:c.3185C>G | XP_011517183.1:p.Ser1062Cys | |
| XM_011518877.3:c.3830C>G | XP_011517179.1:p.Ser1277Cys | |
| XM_011518878.3:c.3776C>G | XP_011517180.1:p.Ser1259Cys | |
| XM_011518879.3:c.3767C>G | XP_011517181.1:p.Ser1256Cys | |
| XM_011518881.3:c.3185C>G | XP_011517183.1:p.Ser1062Cys | |
| XM_017014931.1:c.3629C>G | XP_016870420.1:p.Ser1210Cys | |
| XM_017014932.1:c.3452C>G | XP_016870421.1:p.Ser1151Cys | |
| XM_017014933.1:c.3185C>G | XP_016870422.1:p.Ser1062Cys | |
| XM_024447617.1:c.3185C>G | XP_024303385.1:p.Ser1062Cys | |
| XM_024447618.1:c.3185C>G | XP_024303386.1:p.Ser1062Cys | |
| NM_020822.3:c.3632C>G MANE Select | NP_065873.2:p.Ser1211Cys | |
| NM_001272003.2:c.3560C>G | NP_001258932.1:p.Ser1187Cys |