Revel Score:
ENST00000374708
0.321
ENST00000341947 (MANE Select)
0.321
ENST00000357486
0.321
ENST00000374714
0.321
ENST00000374713
0.321
ENST00000395197
0.321
ENST00000374712
0.321
ENST00000361917
0.321
ENST00000395196
0.321
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164860C>A , CM000668.2:g.33164860C>A | GRCh38 |
| NC_000006.11:g.33132637C>A , CM000668.1:g.33132637C>A | GRCh37 |
| NC_000006.10:g.33240615C>A | NCBI36 |
| NG_011589.1:g.32609G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.661G>T | ||
| ENST00000341947.7:c.4855G>T MANE Select | ENSP00000339915.2:p.Val1619Phe | |
| ENST00000341947.6:c.4855G>T | ENSP00000339915.2:p.Val1619Phe | |
| ENST00000361917.5:c.4534G>T | ENSP00000355123.1:p.Val1512Phe | |
| ENST00000374708.8:c.4597G>T | ENSP00000363840.4:p.Val1533Phe | |
| ENST00000477772.1:n.645G>T | ||
| NM_080679.2:c.4534G>T | NP_542410.2:p.Val1512Phe | |
| NM_080680.2:c.4855G>T | NP_542411.2:p.Val1619Phe | |
| NM_080681.2:c.4597G>T | NP_542412.2:p.Val1533Phe | |
| XM_011514298.1:c.4009G>T | XP_011512600.1:p.Val1337Phe | |
| XM_011514299.1:c.4141G>T | XP_011512601.1:p.Val1381Phe | |
| XM_011514300.1:c.3961G>T | XP_011512602.1:p.Val1321Phe | |
| XM_011514301.1:c.3898G>T | XP_011512603.1:p.Val1300Phe | |
| XM_011514302.1:c.3742G>T | XP_011512604.1:p.Val1248Phe | |
| XM_011514299.2:c.4141G>T | XP_011512601.1:p.Val1381Phe | |
| XM_011514300.2:c.3961G>T | XP_011512602.1:p.Val1321Phe | |
| XM_011514302.2:c.3742G>T | XP_011512604.1:p.Val1248Phe | |
| XM_017010250.1:c.4855G>T | XP_016865739.1:p.Val1619Phe | |
| XM_017010251.2:c.3673G>T | XP_016865740.1:p.Val1225Phe | |
| NM_080680.3:c.4855G>T MANE Select | NP_542411.2:p.Val1619Phe | |
| NM_080681.3:c.4597G>T | NP_542412.2:p.Val1533Phe | |
| NM_080679.3:c.4534G>T | NP_542410.2:p.Val1512Phe |