Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49964271A>C , CM000674.2:g.49964271A>C | GRCh38 |
| NC_000012.11:g.50358054A>C , CM000674.1:g.50358054A>C | GRCh37 |
| NC_000012.10:g.48644321A>C | NCBI36 |
| NG_033883.1:g.7776A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001651.4:c.612+96A>C MANE Select | NP_001642.1:n.612+96A>C |
| ENST00000293599.7:c.612+96A>C MANE Select | ENSP00000293599.5:n.612+96A>C |
| NM_001651.3:c.612+96A>C | NP_001642.1:n.612+96A>C |
| ENST00000293599.6:c.612+96A>C | ENSP00000293599.5:n.612+96A>C |
| ENST00000553132.1:n.601+96A>C | |
| XM_005268838.2:c.612+96A>C | XP_005268895.1:n.612+96A>C |