Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104064484G>A , CM000672.2:g.104064484G>A | GRCh38 |
| NC_000010.10:g.105824242G>A , CM000672.1:g.105824242G>A | GRCh37 |
| NC_000010.9:g.105814232G>A | NCBI36 |
| NG_007069.1:g.26397C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369733.8:c.720C>T | ENSP00000358748.3:p.Thr240= | |
| ENST00000648076.2:c.720C>T MANE Select | ENSP00000497653.1:p.Thr240= | |
| ENST00000649118.1:n.835C>T | ||
| ENST00000650263.1:c.672C>T | ENSP00000497850.1:p.Thr224= | |
| ENST00000353479.9:c.720C>T | ENSP00000340937.5:p.Thr240= | |
| ENST00000369733.7:c.720C>T | ENSP00000358748.3:p.Thr240= | |
| ENST00000393211.3:c.720C>T | ENSP00000376905.3:p.Thr240= | |
| ENST00000488320.1:n.65C>T | ||
| NM_000494.3:c.720C>T | NP_000485.3:p.Thr240= | |
| NM_000494.4:c.720C>T MANE Select | NP_000485.3:p.Thr240= |