Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740621G>T , CM000666.2:g.67740621G>T | GRCh38 |
| NC_000004.11:g.68606339G>T , CM000666.1:g.68606339G>T | GRCh37 |
| NC_000004.10:g.68288934G>T | NCBI36 |
| NG_009293.1:g.20466C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.846C>A MANE Select | ENSP00000226413.5:p.Pro282= | |
| ENST00000226413.4:c.846C>A | ENSP00000226413.4:p.Pro282= | |
| ENST00000420975.2:c.718C>A | ENSP00000397561.2:p.Leu240Ile | |
| NM_000406.2:c.846C>A | NP_000397.1:p.Pro282= | |
| NM_001012763.1:c.718C>A | NP_001012781.1:p.Leu240Ile | |
| NM_000406.3:c.846C>A MANE Select | NP_000397.1:p.Pro282= | |
| NM_001012763.2:c.718C>A | NP_001012781.1:p.Leu240Ile |