gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67435830C>G , CM000678.2:g.67435830C>G | GRCh38 |
| NC_000016.9:g.67469733C>G , CM000678.1:g.67469733C>G | GRCh37 |
| NC_000016.8:g.66027234C>G | NCBI36 |
| NG_016549.1:g.9698C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.468C>G MANE Select | ENSP00000316786.5:p.Thr156= | |
| ENST00000326152.5:c.468C>G | ENSP00000316786.5:p.Thr156= | |
| ENST00000566606.1:c.446C>G | ENSP00000473429.1:n.446C>G | |
| ENST00000567684.2:n.331C>G | ||
| NM_000196.3:c.468C>G | NP_000187.3:p.Thr156= | |
| NM_000196.4:c.468C>G MANE Select | NP_000187.3:p.Thr156= |