ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72888364C>T , CM000664.2:g.72888364C>T | GRCh38 |
| NC_000002.11:g.73115493C>T , CM000664.1:g.73115493C>T | GRCh37 |
| NC_000002.10:g.72969001C>T | NCBI36 |
| NG_008234.1:g.5982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.355C>T MANE Select | ENSP00000234454.5:p.Gln119Ter | |
| ENST00000234454.5:c.355C>T | ENSP00000234454.5:p.Gln119Ter | |
| ENST00000498749.1:n.356-56C>T | ||
| NM_003124.4:c.355C>T | NP_003115.1:p.Gln119Ter | |
| NM_003124.5:c.355C>T MANE Select | NP_003115.1:p.Gln119Ter |