Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740666T>C , CM000666.2:g.67740666T>C | GRCh38 |
| NC_000004.11:g.68606384T>C , CM000666.1:g.68606384T>C | GRCh37 |
| NC_000004.10:g.68288979T>C | NCBI36 |
| NG_009293.1:g.20421A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.801A>G MANE Select | ENSP00000226413.5:p.Lys267= | |
| ENST00000226413.4:c.801A>G | ENSP00000226413.4:p.Lys267= | |
| ENST00000420975.2:c.673A>G | ENSP00000397561.2:p.Asn225Asp | |
| NM_000406.2:c.801A>G | NP_000397.1:p.Lys267= | |
| NM_001012763.1:c.673A>G | NP_001012781.1:p.Asn225Asp | |
| NM_000406.3:c.801A>G MANE Select | NP_000397.1:p.Lys267= | |
| NM_001012763.2:c.673A>G | NP_001012781.1:p.Asn225Asp |