Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624325C>A , CM000679.2:g.41624325C>A | GRCh38 |
| NC_000017.10:g.39780577C>A , CM000679.1:g.39780577C>A | GRCh37 |
| NC_000017.9:g.37034103C>A | NCBI36 |
| NG_008625.1:g.5306G>T | |
| NG_009090.2:g.167388G>T , LRG_401:g.167388G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.185G>T MANE Select | ENSP00000308452.8:p.Ser62Ile | |
| ENST00000311208.12:c.185G>T | ENSP00000308452.8:p.Ser62Ile | |
| ENST00000463128.5:c.-312-119G>T | ENSP00000468672.1:n.-312-119G>T | |
| ENST00000491673.1:n.251G>T | ||
| ENST00000540235.5:c.-21G>T | ENSP00000441751.2:n.-21G>T | |
| ENST00000577817.3:c.140G>T | ENSP00000467418.1:p.Ser47Ile | |
| NM_000422.2:c.185G>T | NP_000413.1:p.Ser62Ile | |
| NM_000422.3:c.185G>T MANE Select | NP_000413.1:p.Ser62Ile |