Revel Score:
ENST00000275034 (MANE Select)
0.343
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79077904A>C , CM000668.2:g.79077904A>C | GRCh38 |
| NC_000006.11:g.79787621A>C , CM000668.1:g.79787621A>C | GRCh37 |
| NC_000006.10:g.79844340A>C | NCBI36 |
| NG_051932.1:g.5395T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700012.1:c.50T>G | ENSP00000514753.1:p.Phe17Cys | |
| ENST00000700013.1:c.50T>G | ENSP00000514754.1:p.Phe17Cys | |
| ENST00000700114.1:c.50T>G | ENSP00000514808.1:p.Phe17Cys | |
| ENST00000700115.1:c.50T>G | ENSP00000514809.1:p.Phe17Cys | |
| ENST00000700118.1:c.50T>G | ENSP00000514810.1:p.Phe17Cys | |
| ENST00000700119.1:c.50T>G | ENSP00000514811.1:p.Phe17Cys | |
| ENST00000700121.1:n.206T>G | ||
| ENST00000275034.5:c.50T>G MANE Select | ENSP00000275034.3:p.Phe17Cys | |
| ENST00000275034.4:c.50T>G | ENSP00000275034.3:p.Phe17Cys | |
| NM_017934.5:c.50T>G | NP_060404.3:p.Phe17Cys | |
| XM_005248729.3:c.50T>G | XP_005248786.1:p.Phe17Cys | |
| XM_011535917.1:c.50T>G | XP_011534219.1:p.Phe17Cys | |
| XM_011535919.1:c.50T>G | XP_011534221.1:p.Phe17Cys | |
| XR_942499.1:n.276T>G | ||
| NM_017934.6:c.50T>G | NP_060404.4:p.Phe17Cys | |
| XM_005248729.5:c.50T>G | XP_005248786.1:p.Phe17Cys | |
| XM_017010989.2:c.-1770T>G | XP_016866478.1:n.-1770T>G | |
| NM_017934.7:c.50T>G MANE Select | NP_060404.4:p.Phe17Cys |