Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.100578386T>A , CM000671.2:g.100578386T>A | GRCh38 |
| NC_000009.11:g.103340668T>A , CM000671.1:g.103340668T>A | GRCh37 |
| NC_000009.10:g.102380489T>A | NCBI36 |
| NG_033273.1:g.5308T>A , LRG_760:g.5308T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307584.6:c.243T>A MANE Select | ENSP00000418668.1:p.Asn81Lys | |
| ENST00000307584.5:c.243T>A | ENSP00000418668.1:p.Asn81Lys | |
| NM_001018116.2:c.243T>A , LRG_760t1:c.243T>A MANE Select | NP_001018126.1:p.Asn81Lys | |
| XM_011518631.1:c.219T>A | XP_011516933.1:p.Asn73Lys | |
| XM_011518632.1:c.21+1431T>A | XP_011516934.1:n.21+1431T>A |