Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23868144G>A , CM000663.2:g.23868144G>A | GRCh38 |
| NC_000001.10:g.24194634G>A , CM000663.1:g.24194634G>A | GRCh37 |
| NC_000001.9:g.24067221G>A | NCBI36 |
| NG_013346.1:g.5226C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.143C>T MANE Select | ENSP00000363603.3:p.Pro48Leu | |
| ENST00000374479.3:c.143C>T | ENSP00000363603.3:p.Pro48Leu | |
| NM_000147.4:c.143C>T | NP_000138.2:p.Pro48Leu | |
| XM_005245821.1:c.-407C>T | XP_005245878.1:n.-407C>T | |
| XM_005245821.3:c.-407C>T | XP_005245878.1:n.-407C>T | |
| NM_000147.5:c.143C>T MANE Select | NP_000138.2:p.Pro48Leu | |
| NR_174379.1:n.147C>T | ||
| NR_174380.1:n.147C>T | ||
| NR_174381.1:n.147C>T | ||
| NR_174382.1:n.147C>T |