Linked Data
ClinVar Variation Id:
530423
dbSNP Id:
rs367984544
ExAC:
12:52200980 C / T
gnomAD v2:
12-52200980-C-T
gnomAD v3:
12-51807196-C-T
gnomAD v4:
12-51807196-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51807196C>T , CM000674.2:g.51807196C>T | GRCh38 |
| NC_000012.11:g.52200980C>T , CM000674.1:g.52200980C>T | GRCh37 |
| NC_000012.10:g.50487247C>T | NCBI36 |
| NG_021180.2:g.220961C>T | |
| NG_021180.3:g.222239C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354534.11:c.5710C>T MANE Plus Clinical | ENSP00000346534.4:p.Arg1904Cys | |
| ENST00000627620.5:c.5710C>T MANE Select | ENSP00000487583.2:p.Arg1904Cys | |
| ENST00000662684.1:c.5710C>T | ENSP00000499636.1:p.Arg1904Cys | |
| ENST00000668547.1:c.5587C>T | ENSP00000499691.1:p.Arg1863Cys | |
| ENST00000354534.10:c.5710C>T | ENSP00000346534.4:p.Arg1904Cys | |
| ENST00000355133.7:c.5587C>T | ENSP00000347255.4:p.Arg1863Cys | |
| ENST00000545061.5:c.5587C>T | ENSP00000440360.1:p.Arg1863Cys | |
| ENST00000599343.5:c.5743C>T | ENSP00000476447.3:p.Arg1915Cys | |
| ENST00000627620.2:c.5710C>T | ENSP00000487583.1:p.Arg1904Cys | |
| NM_001177984.2:c.5587C>T | NP_001171455.1:p.Arg1863Cys | |
| NM_014191.3:c.5710C>T | NP_055006.1:p.Arg1904Cys | |
| XM_006719556.2:c.5710C>T | XP_006719619.1:p.Arg1904Cys | |
| XM_011538650.1:c.5710C>T | XP_011536952.1:p.Arg1904Cys | |
| XM_011538651.1:c.5710C>T | XP_011536953.1:p.Arg1904Cys | |
| NM_001330260.1:c.5710C>T | NP_001317189.1:p.Arg1904Cys | |
| XM_006719556.4:c.5710C>T | XP_006719619.1:p.Arg1904Cys | |
| XM_011538651.3:c.5710C>T | XP_011536953.1:p.Arg1904Cys | |
| XM_017019794.2:c.5710C>T | XP_016875283.1:p.Arg1904Cys | |
| XM_017019795.2:c.5587C>T | XP_016875284.1:p.Arg1863Cys | |
| NM_001330260.2:c.5710C>T MANE Select | NP_001317189.1:p.Arg1904Cys | |
| NM_001369788.1:c.5587C>T | NP_001356717.1:p.Arg1863Cys | |
| NM_014191.4:c.5710C>T MANE Plus Clinical | NP_055006.1:p.Arg1904Cys | |
| NM_001177984.3:c.5587C>T | NP_001171455.1:p.Arg1863Cys |