Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91273448A>C , CM000676.2:g.91273448A>C | GRCh38 |
| NC_000014.8:g.91739792A>C , CM000676.1:g.91739792A>C | GRCh37 |
| NC_000014.7:g.90809545A>C | NCBI36 |
| NG_033118.1:g.149397T>G | |
| NG_033118.2:g.149397T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5264T>G MANE Select | ENSP00000374507.6:p.Phe1755Cys | |
| ENST00000331194.8:c.836T>G | ENSP00000330332.8:p.Phe279Cys | |
| ENST00000389857.10:c.5264T>G | ENSP00000374507.6:p.Phe1755Cys | |
| ENST00000556726.5:c.1492T>G | ||
| NM_001080414.3:c.5264T>G | NP_001073883.2:p.Phe1755Cys | |
| XM_011536796.1:c.5156T>G | XP_011535098.1:p.Phe1719Cys | |
| XM_011536796.2:c.5156T>G | XP_011535098.1:p.Phe1719Cys | |
| XM_017021336.1:c.2345T>G | XP_016876825.1:p.Phe782Cys | |
| NM_001080414.4:c.5264T>G MANE Select | NP_001073883.2:p.Phe1755Cys |