Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31576050G>C , CM000668.2:g.31576050G>C | GRCh38 |
| NC_000006.11:g.31543827G>C , CM000668.1:g.31543827G>C | GRCh37 |
| NC_000006.10:g.31651806G>C | NCBI36 |
| NG_007462.1:g.5478G>C | |
| NG_012010.1:g.8952G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699334.1:c.186+123G>C | ENSP00000514308.1:n.186+123G>C | |
| ENST00000449264.3:c.186+123G>C MANE Select | ENSP00000398698.2:n.186+123G>C | |
| ENST00000449264.2:c.186+123G>C | ENSP00000398698.2:n.186+123G>C | |
| NM_000594.3:c.186+123G>C | NP_000585.2:n.186+123G>C | |
| NM_000594.4:c.186+123G>C MANE Select | NP_000585.2:n.186+123G>C |