Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21570121C>A , CM000669.2:g.21570121C>A | GRCh38 |
| NC_000007.13:g.21609739C>A , CM000669.1:g.21609739C>A | GRCh37 |
| NC_000007.12:g.21576264C>A | NCBI36 |
| NG_012886.2:g.31907C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.1247C>A MANE Select | NP_001264044.1:p.Ser416Ter |
| ENST00000409508.8:c.1247C>A MANE Select | ENSP00000475939.1:p.Ser416Ter |
| NM_001277115.1:c.1247C>A | NP_001264044.1:p.Ser416Ter |
| ENST00000328843.10:c.1247C>A | ENSP00000330671.7:p.Ser416Ter |
| ENST00000409508.7:c.1247C>A | ENSP00000475939.1:p.Ser416Ter |
| ENST00000496218.1:n.133C>A | |
| ENST00000620169.4:c.1247C>A | ENSP00000481693.1:p.Ser416Ter |
| XR_001745114.1:n.2793+3205G>T | |
| XR_927090.1:n.563+3205G>T |