dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117244053T>A , CM000672.2:g.117244053T>A | GRCh38 |
| NC_000010.10:g.119003564T>A , CM000672.1:g.119003564T>A | GRCh37 |
| NC_000010.9:g.118993554T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644641.2:c.204T>A MANE Select | ENSP00000496339.1:p.Thr68= | |
| ENST00000298472.9:c.204T>A | ENSP00000298472.5:p.Thr68= | |
| ENST00000497497.1:n.347T>A | ||
| NM_003054.4:c.204T>A | NP_003045.2:p.Thr68= | |
| NM_003054.5:c.204T>A | NP_003045.2:p.Thr68= | |
| NM_003054.6:c.204T>A MANE Select | NP_003045.2:p.Thr68= |