Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147128742G>T , CM000669.2:g.147128742G>T | GRCh38 |
| NC_000007.13:g.146825834G>T , CM000669.1:g.146825834G>T | GRCh37 |
| NC_000007.12:g.146456767G>T | NCBI36 |
| NG_007092.2:g.1017382G>T | |
| NG_007092.3:g.1017742G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.989G>T MANE Select | ENSP00000354778.3:p.Arg330Ile | |
| ENST00000636561.1:n.892G>T | ||
| ENST00000636870.1:n.851G>T | ||
| ENST00000637150.1:n.918G>T | ||
| ENST00000637694.1:n.892G>T | ||
| ENST00000637825.1:n.472G>T | ||
| ENST00000638117.1:n.892G>T | ||
| ENST00000361727.7:c.989G>T | ENSP00000354778.3:p.Arg330Ile | |
| NM_014141.5:c.989G>T | NP_054860.1:p.Arg330Ile | |
| XM_017011950.2:c.989G>T | XP_016867439.1:p.Arg330Ile | |
| NM_014141.6:c.989G>T MANE Select | NP_054860.1:p.Arg330Ile |