Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904684A>T , CM000685.2:g.154904684A>T | GRCh38 |
| NC_000023.10:g.154132959A>T , CM000685.1:g.154132959A>T | GRCh37 |
| NC_000023.9:g.153786153A>T | NCBI36 |
| NG_011403.1:g.123040T>A | |
| NG_011403.2:g.123040T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5586+127T>A MANE Select | ENSP00000353393.4:n.5586+127T>A | |
| ENST00000360256.8:c.5586+127T>A | ENSP00000353393.4:n.5586+127T>A | |
| NM_000132.3:c.5586+127T>A | NP_000123.1:n.5586+127T>A | |
| XM_011531126.1:c.5481+127T>A | XP_011529428.1:n.5481+127T>A | |
| NM_000132.4:c.5586+127T>A MANE Select | NP_000123.1:n.5586+127T>A |