Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104033959G>A , CM000672.2:g.104033959G>A | GRCh38 |
| NC_000010.10:g.105793717G>A , CM000672.1:g.105793717G>A | GRCh37 |
| NC_000010.9:g.105783707G>A | NCBI36 |
| NG_007069.1:g.56922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3896C>T | ENSP00000358748.3:p.Ser1299Leu | |
| ENST00000647647.1:c.172C>T | ||
| ENST00000648076.2:c.4142C>T MANE Select | ENSP00000497653.1:p.Ser1381Leu | |
| ENST00000353479.9:c.4142C>T | ENSP00000340937.5:p.Ser1381Leu | |
| ENST00000369733.7:c.3896C>T | ENSP00000358748.3:p.Ser1299Leu | |
| NM_000494.3:c.4142C>T | NP_000485.3:p.Ser1381Leu | |
| NM_000494.4:c.4142C>T MANE Select | NP_000485.3:p.Ser1381Leu |