Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118933029T>A , CM000670.2:g.118933029T>A | GRCh38 |
| NC_000008.10:g.119945268T>A , CM000670.1:g.119945268T>A | GRCh37 |
| NC_000008.9:g.120014449T>A | NCBI36 |
| NG_012202.1:g.24116A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297350.9:c.302A>T MANE Select | ENSP00000297350.4:p.His101Leu | |
| ENST00000297350.8:c.302A>T | ENSP00000297350.4:p.His101Leu | |
| ENST00000517352.1:c.302A>T | ENSP00000427924.1:p.His101Leu | |
| NM_002546.3:c.302A>T | NP_002537.3:p.His101Leu | |
| NM_002546.4:c.302A>T MANE Select | NP_002537.3:p.His101Leu |