ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869209C>T , CM000664.2:g.240869209C>T | GRCh38 |
| NC_000002.11:g.241808626C>T , CM000664.1:g.241808626C>T | GRCh37 |
| NC_000002.10:g.241457299C>T | NCBI36 |
| NG_008005.1:g.5465C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.205C>T MANE Select | ENSP00000302620.3:p.Gln69Ter | |
| ENST00000307503.3:c.205C>T | ENSP00000302620.3:p.Gln69Ter | |
| ENST00000472436.1:n.225C>T | ||
| NM_000030.2:c.205C>T | NP_000021.1:p.Gln69Ter | |
| XR_924060.1:n.405+1024G>A | ||
| NM_000030.3:c.205C>T MANE Select | NP_000021.1:p.Gln69Ter |