ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102066708C>T , CM000672.2:g.102066708C>T | GRCh38 |
| NC_000010.10:g.103826465C>T , CM000672.1:g.103826465C>T | GRCh37 |
| NC_000010.9:g.103816455C>T | NCBI36 |
| NG_012029.1:g.6319C>T , LRG_564:g.6319C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299238.7:c.1234C>T MANE Select | ENSP00000299238.5:p.Gln412Ter | |
| ENST00000299238.6:c.1234C>T | ENSP00000299238.5:p.Gln412Ter | |
| NM_024747.5:c.1234C>T , LRG_564t1:c.1234C>T | NP_079023.2:p.Gln412Ter | |
| NM_024747.6:c.1234C>T MANE Select | NP_079023.2:p.Gln412Ter |