Linked Data
dbSNP Id:
rs753966000
ExAC:
22:44324766 C / T
gnomAD v2:
22-44324766-C-T
gnomAD v3:
22-43928886-C-T
gnomAD v4:
22-43928886-C-T
COSMIC:
COSM1034926
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928886C>T , CM000684.2:g.43928886C>T | GRCh38 |
| NC_000022.10:g.44324766C>T , CM000684.1:g.44324766C>T | GRCh37 |
| NC_000022.9:g.42656099C>T | NCBI36 |
| NG_008631.1:g.10148C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.483C>T MANE Select | ENSP00000216180.3:p.Gly161= | |
| ENST00000216180.7:c.483C>T | ENSP00000216180.3:p.Gly161= | |
| ENST00000406117.6:c.*115C>T | ENSP00000384668.2:n.*115C>T | |
| ENST00000423180.2:c.471C>T | ENSP00000397987.2:p.Gly157= | |
| ENST00000478713.1:n.517C>T | ||
| NM_025225.2:c.483C>T | NP_079501.2:p.Gly161= | |
| NM_025225.3:c.483C>T MANE Select | NP_079501.2:p.Gly161= |