Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904809A>G , CM000685.2:g.154904809A>G | GRCh38 |
| NC_000023.10:g.154133084A>G , CM000685.1:g.154133084A>G | GRCh37 |
| NC_000023.9:g.153786278A>G | NCBI36 |
| NG_011403.1:g.122915T>C | |
| NG_011403.2:g.122915T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.5586+2T>C MANE Select | NP_000123.1:n.5586+2T>C |
| ENST00000360256.9:c.5586+2T>C MANE Select | ENSP00000353393.4:n.5586+2T>C |
| NM_000132.3:c.5586+2T>C | NP_000123.1:n.5586+2T>C |
| ENST00000360256.8:c.5586+2T>C | ENSP00000353393.4:n.5586+2T>C |
| XM_011531126.1:c.5481+2T>C | XP_011529428.1:n.5481+2T>C |