Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139471320G>C , CM000667.2:g.139471320G>C | GRCh38 |
| NC_000005.9:g.138850905G>C , CM000667.1:g.138850905G>C | GRCh37 |
| NC_000005.8:g.138831089G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001365197.1:c.9+190G>C MANE Select | NP_001352126.1:n.9+190G>C |
| ENST00000637503.2:c.9+190G>C MANE Select | ENSP00000490796.1:n.9+190G>C |
| ENST00000637503.1:c.9+190G>C | ENSP00000490796.1:n.9+190G>C |
| XR_002956229.1:n.291+27G>C |