Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129750474C>T , CM000685.2:g.129750474C>T | GRCh38 |
| NC_000023.10:g.128884450C>T , CM000685.1:g.128884450C>T | GRCh37 |
| NC_000023.9:g.128712131C>T | NCBI36 |
| NG_011479.1:g.16505C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003399.6:c.644C>T MANE Select | NP_003390.4:p.Thr215Ile |
| ENST00000371106.4:c.644C>T MANE Select | ENSP00000360147.3:p.Thr215Ile |
| NM_003399.5:c.644C>T | NP_003390.4:p.Thr215Ile |
| ENST00000371106.3:c.644C>T | ENSP00000360147.3:p.Thr215Ile |