Linked Data
dbSNP Id:
rs759133242
ExAC:
9:21816757 C / T
gnomAD v2:
9-21816757-C-T
gnomAD v3:
9-21816758-C-T
gnomAD v4:
9-21816758-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21816758C>T , CM000671.2:g.21816758C>T | GRCh38 |
| NC_000009.11:g.21816757C>T , CM000671.1:g.21816757C>T | GRCh37 |
| NC_000009.10:g.21806757C>T | NCBI36 |
| NG_032650.1:g.19123C>T | |
| NG_032650.2:g.19123C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404796.3:c.165C>T | ENSP00000385916.2:p.Cys55= | |
| ENST00000644715.2:c.165C>T MANE Select | ENSP00000494373.1:p.Cys55= | |
| ENST00000380172.8:c.165C>T | ENSP00000369519.4:p.Cys55= | |
| ENST00000404796.2:c.165C>T | ENSP00000385916.2:p.Cys55= | |
| ENST00000419385.5:c.*37C>T | ENSP00000393507.1:n.*37C>T | |
| ENST00000427788.2:n.551C>T | ||
| ENST00000460874.6:c.216C>T | ENSP00000461932.1:p.Cys72= | |
| ENST00000579422.5:n.553C>T | ||
| ENST00000580718.1:c.165C>T | ENSP00000464616.1:p.Cys55= | |
| ENST00000580900.5:c.165C>T | ENSP00000463424.1:p.Cys55= | |
| NM_002451.3:c.165C>T | NP_002442.2:p.Cys55= | |
| NM_002451.4:c.165C>T MANE Select | NP_002442.2:p.Cys55= | |
| NM_001396040.1:c.216C>T | NP_001382969.1:p.Cys72= | |
| NM_001396041.1:c.165C>T | NP_001382970.1:p.Cys55= | |
| NM_001396042.1:c.165C>T | NP_001382971.1:p.Cys55= | |
| NM_001396043.1:c.165C>T | NP_001382972.1:p.Cys55= | |
| NM_001396044.1:c.165C>T | NP_001382973.1:p.Cys55= | |
| NM_001396045.1:c.165C>T | NP_001382974.1:p.Cys55= | |
| NR_173242.1:n.278C>T |