Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184451T>C , CM000679.2:g.42184451T>C | GRCh38 |
| NC_000017.10:g.40336469T>C , CM000679.1:g.40336469T>C | GRCh37 |
| NC_000017.9:g.37589995T>C | NCBI36 |
| NG_011448.1:g.6002A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.99A>G MANE Select | ENSP00000293330.1:p.Ala33= | |
| NM_001524.1:c.99A>G MANE Select | NP_001515.1:p.Ala33= |