Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034308C>T , CM000672.2:g.104034308C>T | GRCh38 |
| NC_000010.10:g.105794066C>T , CM000672.1:g.105794066C>T | GRCh37 |
| NC_000010.9:g.105784056C>T | NCBI36 |
| NG_007069.1:g.56573G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3547G>A | ENSP00000358748.3:p.Gly1183Ser | |
| ENST00000648076.2:c.3793G>A MANE Select | ENSP00000497653.1:p.Gly1265Ser | |
| ENST00000353479.9:c.3793G>A | ENSP00000340937.5:p.Gly1265Ser | |
| ENST00000369733.7:c.3547G>A | ENSP00000358748.3:p.Gly1183Ser | |
| NM_000494.3:c.3793G>A | NP_000485.3:p.Gly1265Ser | |
| NM_000494.4:c.3793G>A MANE Select | NP_000485.3:p.Gly1265Ser |