Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99851537G>T , CM000672.2:g.99851537G>T | GRCh38 |
| NC_000010.10:g.101611294G>T , CM000672.1:g.101611294G>T | GRCh37 |
| NC_000010.9:g.101601284G>T | NCBI36 |
| NG_011798.1:g.73832G>T | |
| NG_011798.2:g.73940G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.4544G>T MANE Select | ENSP00000497274.1:p.Cys1515Phe | |
| ENST00000648523.1:c.614G>T | ||
| ENST00000370449.8:c.4544G>T | ENSP00000359478.4:p.Cys1515Phe | |
| NM_000392.4:c.4544G>T | NP_000383.1:p.Cys1515Phe | |
| XM_006717630.2:c.3848G>T | XP_006717693.1:p.Cys1283Phe | |
| NM_000392.5:c.4544G>T MANE Select | NP_000383.2:p.Cys1515Phe | |
| XM_006717630.3:c.3848G>T | XP_006717693.1:p.Cys1283Phe |