Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274964G>A , CM000681.2:g.2274964G>A | GRCh38 |
| NC_000019.9:g.2274963G>A , CM000681.1:g.2274963G>A | GRCh37 |
| NC_000019.8:g.2225963G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*716C>T MANE Select | ENSP00000345102.3:n.*716C>T | |
| ENST00000342063.4:c.*716C>T | ENSP00000345102.3:n.*716C>T | |
| ENST00000621615.1:c.146+5220G>A | ENSP00000481965.1:n.146+5220G>A | |
| NM_198532.2:c.*716C>T | NP_940934.1:n.*716C>T | |
| NM_198532.3:c.*716C>T MANE Select | NP_940934.1:n.*716C>T |