Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212136A>G , CM000670.2:g.23212136A>G | GRCh38 |
| NC_000008.10:g.23069649A>G , CM000670.1:g.23069649A>G | GRCh37 |
| NC_000008.9:g.23125594A>G | NCBI36 |
| NG_032107.1:g.18032T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.383T>C MANE Select | ENSP00000221132.3:p.Leu128Ser | |
| ENST00000221132.7:c.383T>C | ENSP00000221132.3:p.Leu128Ser | |
| ENST00000524158.5:c.-224T>C | ENSP00000428884.1:n.-224T>C | |
| ENST00000613472.1:c.32-9477T>C | ENSP00000480778.1:n.32-9477T>C | |
| NM_003844.3:c.383T>C | NP_003835.3:p.Leu128Ser | |
| NM_003844.4:c.383T>C MANE Select | NP_003835.3:p.Leu128Ser |