Revel Score:
ENST00000313654 (MANE Select)
0.359
ENST00000399516
0.359
ENST00000269217 (MANE Plus Clinical)
0.359
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23928765G>T , CM000680.2:g.23928765G>T | GRCh38 |
| NC_000018.9:g.21508729G>T , CM000680.1:g.21508729G>T | GRCh37 |
| NC_000018.8:g.19762727G>T | NCBI36 |
| NG_007853.2:g.244168G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.3609G>T MANE Plus Clinical | ENSP00000269217.5:p.Trp1203Cys | |
| ENST00000313654.14:c.8436G>T MANE Select | ENSP00000324532.8:p.Trp2812Cys | |
| ENST00000649721.1:c.5031G>T | ENSP00000497885.1:p.Trp1677Cys | |
| ENST00000269217.10:c.3609G>T | ENSP00000269217.5:p.Trp1203Cys | |
| ENST00000313654.13:c.8436G>T | ENSP00000324532.8:p.Trp2812Cys | |
| ENST00000399516.7:c.8268G>T | ENSP00000382432.2:p.Trp2756Cys | |
| ENST00000586751.5:c.3214G>T | ||
| ENST00000587184.5:c.3441G>T | ENSP00000466557.1:p.Trp1147Cys | |
| ENST00000588164.2:c.141G>T | ENSP00000467473.2:p.Trp47Cys | |
| ENST00000588770.5:n.3014G>T | ||
| NM_000227.4:c.3609G>T | NP_000218.3:p.Trp1203Cys | |
| NM_001127717.2:c.8268G>T | NP_001121189.2:p.Trp2756Cys | |
| NM_001127718.2:c.3441G>T | NP_001121190.2:p.Trp1147Cys | |
| NM_198129.2:c.8436G>T | NP_937762.2:p.Trp2812Cys | |
| XM_011525978.1:c.8463G>T | XP_011524280.1:p.Trp2821Cys | |
| XM_011525979.1:c.8454G>T | XP_011524281.1:p.Trp2818Cys | |
| XM_011525980.1:c.8445G>T | XP_011524282.1:p.Trp2815Cys | |
| XM_011525981.1:c.8331G>T | XP_011524283.1:p.Trp2777Cys | |
| XM_011525982.1:c.8166G>T | XP_011524284.1:p.Trp2722Cys | |
| XM_011525978.2:c.8463G>T | XP_011524280.1:p.Trp2821Cys | |
| XM_011525979.2:c.8454G>T | XP_011524281.1:p.Trp2818Cys | |
| XM_011525980.2:c.8445G>T | XP_011524282.1:p.Trp2815Cys | |
| XM_011525981.2:c.8331G>T | XP_011524283.1:p.Trp2777Cys | |
| XM_011525982.2:c.8166G>T | XP_011524284.1:p.Trp2722Cys | |
| XM_017025743.1:c.6315G>T | XP_016881232.1:p.Trp2105Cys | |
| XM_017025744.1:c.4005G>T | XP_016881233.1:p.Trp1335Cys | |
| XR_001753199.1:n.8704G>T | ||
| NM_000227.5:c.3609G>T | NP_000218.3:p.Trp1203Cys | |
| NM_001127717.3:c.8268G>T | NP_001121189.2:p.Trp2756Cys | |
| NM_001127718.3:c.3441G>T | NP_001121190.2:p.Trp1147Cys | |
| NM_198129.3:c.8436G>T | NP_937762.2:p.Trp2812Cys | |
| NM_000227.6:c.3609G>T MANE Plus Clinical | NP_000218.3:p.Trp1203Cys | |
| NM_001127717.4:c.8268G>T | NP_001121189.2:p.Trp2756Cys | |
| NM_001127718.4:c.3441G>T | NP_001121190.2:p.Trp1147Cys | |
| NM_198129.4:c.8436G>T MANE Select | NP_937762.2:p.Trp2812Cys |