Linked Data
dbSNP Id:
rs567132198
ExAC:
11:121174143 C / T
gnomAD v2:
11-121174143-C-T
gnomAD v3:
11-121303434-C-T
gnomAD v4:
11-121303434-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121303434C>T , CM000673.2:g.121303434C>T | GRCh38 |
| NC_000011.9:g.121174143C>T , CM000673.1:g.121174143C>T | GRCh37 |
| NC_000011.8:g.120679353C>T | NCBI36 |
| NG_009446.1:g.15756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.59C>T MANE Select | ENSP00000264027.4:p.Ala20Val | |
| ENST00000264027.8:c.59C>T | ENSP00000264027.4:p.Ala20Val | |
| ENST00000392789.2:c.59C>T | ENSP00000376539.2:p.Ala20Val | |
| ENST00000524683.5:n.115C>T | ||
| ENST00000527762.5:c.59C>T | ENSP00000436290.1:p.Ala20Val | |
| ENST00000531140.1:n.127C>T | ||
| ENST00000534230.5:c.59C>T | ENSP00000432550.1:p.Ala20Val | |
| ENST00000534455.5:n.205C>T | ||
| NM_001024956.2:c.59C>T | NP_001020127.1:p.Ala20Val | |
| NM_006918.4:c.59C>T | NP_008849.2:p.Ala20Val | |
| NM_006918.5:c.59C>T MANE Select | NP_008849.2:p.Ala20Val | |
| NM_001024956.3:c.59C>T | NP_001020127.1:p.Ala20Val |