ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000207549 (MANE Select)
0.952
ENST00000412096
0.952
ENST00000448606
0.952
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75831153A>C , CM000679.2:g.75831153A>C | GRCh38 |
| NC_000017.10:g.73827234A>C , CM000679.1:g.73827234A>C | GRCh37 |
| NC_000017.9:g.71338829A>C | NCBI36 |
| NG_007266.1:g.18565T>G , LRG_122:g.18565T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699510.1:c.1436T>G | ENSP00000514405.1:p.Phe479Cys | |
| ENST00000207549.9:c.2570T>G MANE Select | ENSP00000207549.3:p.Phe857Cys | |
| ENST00000207549.8:c.2570T>G | ENSP00000207549.3:p.Phe857Cys | |
| ENST00000412096.6:c.2570T>G | ENSP00000388093.1:p.Phe857Cys | |
| NM_199242.2:c.2570T>G , LRG_122t1:c.2570T>G | NP_954712.1:p.Phe857Cys | |
| XM_011524504.1:c.2639T>G | XP_011522806.1:p.Phe880Cys | |
| XM_011524505.1:c.2639T>G | XP_011522807.1:p.Phe880Cys | |
| XM_011524506.1:c.2636T>G | XP_011522808.1:p.Phe879Cys | |
| XM_011524507.1:c.2030T>G | XP_011522809.1:p.Phe677Cys | |
| XM_011524508.1:c.2030T>G | XP_011522810.1:p.Phe677Cys | |
| XM_011524504.2:c.2639T>G | XP_011522806.1:p.Phe880Cys | |
| XM_011524507.2:c.2030T>G | XP_011522809.1:p.Phe677Cys | |
| XM_024450640.1:c.2030T>G | XP_024306408.1:p.Phe677Cys | |
| NM_199242.3:c.2570T>G MANE Select | NP_954712.1:p.Phe857Cys |