Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65196790C>T , CM000677.2:g.65196790C>T | GRCh38 |
| NC_000015.9:g.65489128C>T , CM000677.1:g.65489128C>T | GRCh37 |
| NC_000015.8:g.63276181C>T | NCBI36 |
| NG_012214.1:g.19713G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003613.4:c.3496G>A MANE Select | NP_003604.4:p.Gly1166Ser |
| ENST00000261883.6:c.3496G>A MANE Select | ENSP00000261883.4:p.Gly1166Ser |
| NM_003613.3:c.3496G>A | NP_003604.3:p.Gly1166Ser |
| ENST00000261883.5:c.3496G>A | ENSP00000261883.4:p.Gly1166Ser |
| XM_017022678.2:c.3577G>A | XP_016878167.1:p.Gly1193Ser |
| XM_017022679.1:c.3424G>A | XP_016878168.1:p.Gly1142Ser |