Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21570052C>A , CM000669.2:g.21570052C>A | GRCh38 |
| NC_000007.13:g.21609670C>A , CM000669.1:g.21609670C>A | GRCh37 |
| NC_000007.12:g.21576195C>A | NCBI36 |
| NG_012886.2:g.31838C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.1195-17C>A MANE Select | NP_001264044.1:n.1195-17C>A |
| ENST00000409508.8:c.1195-17C>A MANE Select | ENSP00000475939.1:n.1195-17C>A |
| NM_001277115.1:c.1195-17C>A | NP_001264044.1:n.1195-17C>A |
| ENST00000328843.10:c.1195-17C>A | ENSP00000330671.7:n.1195-17C>A |
| ENST00000409508.7:c.1195-17C>A | ENSP00000475939.1:n.1195-17C>A |
| ENST00000496218.1:n.81-17C>A | |
| ENST00000620169.4:c.1195-17C>A | ENSP00000481693.1:n.1195-17C>A |
| XR_001745114.1:n.2793+3274G>T | |
| XR_927090.1:n.563+3274G>T |