Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144052030C>T , CM000670.2:g.144052030C>T | GRCh38 |
| NC_000008.9:g.145178919C>T | NCBI36 |
| NG_032671.1:g.13652G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017570.5:c.3508G>A MANE Select | NP_060040.1:p.Gly1170Ser |
| ENST00000618853.5:c.3508G>A MANE Select | ENSP00000480476.1:p.Gly1170Ser |
| NM_017570.4:c.3508G>A | NP_060040.1:p.Gly1170Ser |
| ENST00000618853.4:c.3508G>A | ENSP00000480476.1:p.Gly1170Ser |
| XM_011516960.1:c.3796G>A | XP_011515262.1:p.Gly1266Ser |