Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8085905T>G , CM000679.2:g.8085905T>G | GRCh38 |
| NC_000017.10:g.7989223T>G , CM000679.1:g.7989223T>G | GRCh37 |
| NC_000017.9:g.7929948T>G | NCBI36 |
| NG_007099.1:g.6799A>C | |
| NG_007099.2:g.6812A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.352+111A>C MANE Select | ENSP00000497784.1:n.352+111A>C | |
| ENST00000319144.4:c.352+111A>C | ENSP00000315167.4:n.352+111A>C | |
| NM_001139.2:c.352+111A>C | NP_001130.1:n.352+111A>C | |
| NM_001139.3:c.352+111A>C MANE Select | NP_001130.1:n.352+111A>C |