Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868905C>T , CM000664.2:g.240868905C>T | GRCh38 |
| NC_000002.11:g.241808322C>T , CM000664.1:g.241808322C>T | GRCh37 |
| NC_000002.10:g.241456995C>T | NCBI36 |
| NG_008005.1:g.5161C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.40C>T MANE Select | NP_000021.1:p.Leu14= |
| ENST00000307503.4:c.40C>T MANE Select | ENSP00000302620.3:p.Leu14= |
| NM_000030.2:c.40C>T | NP_000021.1:p.Leu14= |
| ENST00000307503.3:c.40C>T | ENSP00000302620.3:p.Leu14= |
| ENST00000472436.1:n.60C>T | |
| XR_924060.1:n.405+1328G>A |