Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184744C>G , CM000679.2:g.42184744C>G | GRCh38 |
| NC_000017.10:g.40336762C>G , CM000679.1:g.40336762C>G | GRCh37 |
| NC_000017.9:g.37590288C>G | NCBI36 |
| NG_011448.1:g.5709G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.22-216G>C MANE Select | ENSP00000293330.1:n.22-216G>C | |
| NM_001524.1:c.22-216G>C MANE Select | NP_001515.1:n.22-216G>C |