Linked Data
ClinVar Variation Id:
533827
dbSNP Id:
rs760254039
ExAC:
19:10897279 C / T
gnomAD v2:
19-10897279-C-T
gnomAD v3:
19-10786603-C-T
gnomAD v4:
19-10786603-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10786603C>T , CM000681.2:g.10786603C>T | GRCh38 |
| NC_000019.9:g.10897279C>T , CM000681.1:g.10897279C>T | GRCh37 |
| NC_000019.8:g.10758279C>T | NCBI36 |
| NG_008792.1:g.73525C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682285.1:n.1077C>T | ||
| ENST00000682524.1:n.1077C>T | ||
| ENST00000683738.1:n.1077C>T | ||
| ENST00000355667.11:c.889C>T | ENSP00000347890.6:p.Arg297Cys | |
| ENST00000389253.9:c.889C>T MANE Select | ENSP00000373905.4:p.Arg297Cys | |
| ENST00000355667.10:c.889C>T | ENSP00000347890.6:p.Arg297Cys | |
| ENST00000359692.10:c.889C>T | ENSP00000352721.6:p.Arg297Cys | |
| ENST00000389253.8:c.889C>T | ENSP00000373905.3:p.Arg297Cys | |
| ENST00000408974.8:c.889C>T | ENSP00000386192.3:p.Arg297Cys | |
| ENST00000585892.5:c.889C>T | ENSP00000468734.1:p.Arg297Cys | |
| ENST00000586130.1:n.174C>T | ||
| ENST00000587485.1:n.395C>T | ||
| ENST00000587830.2:c.145C>T | ENSP00000466603.2:p.Arg49Cys | |
| ENST00000591701.5:n.249C>T | ||
| NM_001005360.2:c.889C>T | NP_001005360.1:p.Arg297Cys | |
| NM_001005361.2:c.889C>T | NP_001005361.1:p.Arg297Cys | |
| NM_001005362.2:c.889C>T | NP_001005362.1:p.Arg297Cys | |
| NM_001190716.1:c.889C>T | NP_001177645.1:p.Arg297Cys | |
| NM_004945.3:c.889C>T | NP_004936.2:p.Arg297Cys | |
| NM_001005361.3:c.889C>T MANE Select | NP_001005361.1:p.Arg297Cys | |
| NM_001190716.2:c.889C>T | NP_001177645.1:p.Arg297Cys | |
| NM_001005360.3:c.889C>T | NP_001005360.1:p.Arg297Cys | |
| NM_001005362.3:c.889C>T | NP_001005362.1:p.Arg297Cys | |
| NM_004945.4:c.889C>T | NP_004936.2:p.Arg297Cys |