Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3976671C>A , CM000681.2:g.3976671C>A | GRCh38 |
| NC_000019.9:g.3976669C>A , CM000681.1:g.3976669C>A | GRCh37 |
| NC_000019.8:g.3927669C>A | NCBI36 |
| NG_042274.1:g.13793G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001961.4:c.2460G>T MANE Select | NP_001952.1:p.Leu820= |
| ENST00000309311.7:c.2460G>T MANE Select | ENSP00000307940.5:p.Leu820= |
| NM_001961.3:c.2460G>T | NP_001952.1:p.Leu820= |
| ENST00000309311.6:c.2460G>T | ENSP00000307940.5:p.Leu820= |
| ENST00000600794.1:c.108-371G>T |