Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.33025505G>C , CM000671.2:g.33025505G>C | GRCh38 |
| NC_000009.11:g.33025503G>C , CM000671.1:g.33025503G>C | GRCh37 |
| NC_000009.10:g.33015503G>C | NCBI36 |
| NG_012821.2:g.4627C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001539.4:c.-11+122G>C MANE Select | NP_001530.1:n.-11+122G>C |
| ENST00000330899.5:c.-11+122G>C MANE Select | ENSP00000369127.3:n.-11+122G>C |
| NM_001314039.1:c.-304+122G>C | NP_001300968.1:n.-304+122G>C |
| NM_001314039.2:c.-304+122G>C | NP_001300968.1:n.-304+122G>C |
| NM_001539.2:c.-11+122G>C | NP_001530.1:n.-11+122G>C |
| NM_001539.3:c.-11+122G>C | NP_001530.1:n.-11+122G>C |
| ENST00000330899.4:c.-11+122G>C | ENSP00000369127.3:n.-11+122G>C |
| ENST00000495015.5:n.98+122G>C |