Revel Score:
ENST00000405460 (MANE Select)
0.604
ENST00000296619
0.604
ENST00000509621
0.587
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90759569T>G , CM000667.2:g.90759569T>G | GRCh38 |
| NC_000005.9:g.90055386T>G , CM000667.1:g.90055386T>G | GRCh37 |
| NC_000005.8:g.90091142T>G | NCBI36 |
| NG_007083.1:g.205770T>G | |
| NG_007083.2:g.235226T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12101T>G MANE Select | ENSP00000384582.2:p.Phe4034Cys | |
| ENST00000425867.3:c.1055T>G | ENSP00000392618.3:p.Phe352Cys | |
| ENST00000639431.1:c.265+83360T>G | ENSP00000491057.1:n.265+83360T>G | |
| ENST00000639884.1:n.755T>G | ||
| ENST00000640374.1:n.5068T>G | ||
| ENST00000640464.1:n.2520T>G | ||
| ENST00000405460.6:c.12101T>G | ENSP00000384582.2:p.Phe4034Cys | |
| ENST00000509621.1:c.4798T>G | ||
| NM_032119.3:c.12101T>G | NP_115495.3:p.Phe4034Cys | |
| NR_003149.1:n.12114T>G | ||
| XM_011543675.1:c.12098T>G | XP_011541977.1:p.Phe4033Cys | |
| XM_011543676.1:c.12020T>G | XP_011541978.1:p.Phe4007Cys | |
| XM_011543677.1:c.9404T>G | XP_011541979.1:p.Phe3135Cys | |
| XM_011543678.1:c.12101T>G | XP_011541980.1:p.Phe4034Cys | |
| NM_032119.4:c.12101T>G MANE Select | NP_115495.3:p.Phe4034Cys | |
| XM_017009963.2:c.12122T>G | XP_016865452.1:p.Phe4041Cys | |
| XM_017009964.2:c.12119T>G | XP_016865453.1:p.Phe4040Cys | |
| XM_017009965.1:c.12119T>G | XP_016865454.1:p.Phe4040Cys | |
| XM_017009966.2:c.12041T>G | XP_016865455.1:p.Phe4014Cys | |
| XM_017009967.1:c.12026T>G | XP_016865456.1:p.Phe4009Cys | |
| XM_017009968.2:c.12122T>G | XP_016865457.1:p.Phe4041Cys | |
| XM_017009969.2:c.12122T>G | XP_016865458.1:p.Phe4041Cys | |
| XM_017009970.2:c.12122T>G | XP_016865459.1:p.Phe4041Cys | |
| XM_017009971.2:c.12122T>G | XP_016865460.1:p.Phe4041Cys | |
| XM_017009972.1:c.5240T>G | XP_016865461.1:p.Phe1747Cys | |
| XM_017009973.1:c.5219T>G | XP_016865462.1:p.Phe1740Cys | |
| NR_003149.2:n.12117T>G |