Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133356268C>G , CM000671.2:g.133356268C>G | GRCh38 |
| NC_000009.10:g.135212944C>G | NCBI36 |
| NG_008477.1:g.5239G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.106+1G>C MANE Select | NP_003163.1:n.106+1G>C |
| ENST00000371974.8:c.106+1G>C MANE Select | ENSP00000361042.3:n.106+1G>C |
| NM_001280787.1:c.-222+132G>C | NP_001267716.1:n.-222+132G>C |
| NM_003172.3:c.106+1G>C | NP_003163.1:n.106+1G>C |
| ENST00000371974.7:c.106+1G>C | ENSP00000361042.3:n.106+1G>C |
| ENST00000437995.1:n.52+1G>C | |
| ENST00000463965.1:n.330G>C | |
| ENST00000615505.4:c.-222+132G>C | ENSP00000482067.1:n.-222+132G>C |
| XM_011518942.1:c.-357G>C | XP_011517244.1:n.-357G>C |