Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39515316C>G , CM000681.2:g.39515316C>G | GRCh38 |
| NC_000019.9:g.40005956C>G , CM000681.1:g.40005956C>G | GRCh37 |
| NC_000019.8:g.44697796C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335426.9:c.104C>G MANE Select | ENSP00000333956.4:p.Thr35Ser | |
| ENST00000335426.8:c.104C>G | ENSP00000333956.4:p.Thr35Ser | |
| ENST00000423711.4:c.104C>G | ENSP00000412508.2:p.Thr35Ser | |
| ENST00000622070.2:c.104C>G | ENSP00000481883.1:p.Thr35Ser | |
| NM_182704.1:c.104C>G | NP_874363.1:p.Thr35Ser | |
| NM_001350809.1:c.104C>G | NP_001337738.1:p.Thr35Ser | |
| NR_146916.1:n.204C>G | ||
| NM_182704.2:c.104C>G MANE Select | NP_874363.1:p.Thr35Ser |