Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19962730G>C , CM000670.2:g.19962730G>C | GRCh38 |
| NC_000008.10:g.19820241G>C , CM000670.1:g.19820241G>C | GRCh37 |
| NC_000008.9:g.19864521G>C | NCBI36 |
| NG_008855.1:g.28660G>C | |
| NG_008855.2:g.66014G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1427+511G>C MANE Select | ENSP00000497642.1:n.1427+511G>C | |
| ENST00000650478.1:c.367+511G>C | ENSP00000497560.1:n.367+511G>C | |
| ENST00000311322.8:c.1427+511G>C | ENSP00000309757.6:n.1427+511G>C | |
| NM_000237.2:c.1427+511G>C | NP_000228.1:n.1427+511G>C | |
| NM_000237.3:c.1427+511G>C MANE Select | NP_000228.1:n.1427+511G>C |