Linked Data
dbSNP Id:
rs738409
gnomAD v4:
22-43928847-C-T
MyVariant Identifiers:
chr22:g.44324727C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928847C>T , CM000684.2:g.43928847C>T | GRCh38 |
| NC_000022.10:g.44324727C>T , CM000684.1:g.44324727C>T | GRCh37 |
| NC_000022.9:g.42656060C>T | NCBI36 |
| NG_008631.1:g.10109C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216180.8:c.444C>T MANE Select | ENSP00000216180.3:p.Ile148= | |
| ENST00000216180.7:c.444C>T | ENSP00000216180.3:p.Ile148= | |
| ENST00000406117.6:c.*76C>T | ENSP00000384668.2:n.*76C>T | |
| ENST00000423180.2:c.432C>T | ENSP00000397987.2:p.Ile144= | |
| ENST00000478713.1:n.478C>T | ||
| NM_025225.2:c.444C>T | NP_079501.2:p.Ile148= | |
| NM_025225.3:c.444C>T MANE Select | NP_079501.2:p.Ile148= |