Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.165341795A>C , CM000666.2:g.165341795A>C | GRCh38 |
| NC_000004.11:g.166262947A>C , CM000666.1:g.166262947A>C | GRCh37 |
| NC_000004.10:g.166482397A>C | NCBI36 |
| NG_042288.1:g.19130A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006745.5:c.731A>C MANE Select | NP_006736.1:p.Tyr244Ser |
| ENST00000261507.11:c.731A>C MANE Select | ENSP00000261507.6:p.Tyr244Ser |
| NM_001017369.2:c.338A>C | NP_001017369.1:p.Tyr113Ser |
| NM_001017369.3:c.338A>C | NP_001017369.1:p.Tyr113Ser |
| NM_006745.4:c.731A>C | NP_006736.1:p.Tyr244Ser |
| ENST00000261507.10:c.731A>C | ENSP00000261507.6:p.Tyr244Ser |
| ENST00000393766.6:c.338A>C | ENSP00000377361.2:p.Tyr113Ser |
| XM_005263176.1:c.731A>C | XP_005263233.1:p.Tyr244Ser |
| XM_005263176.2:c.731A>C | XP_005263233.1:p.Tyr244Ser |