Revel Score:
ENST00000237596 (MANE Select)
0.833
ENST00000508588
0.833
ENST00000502363
0.833
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88057990C>A , CM000666.2:g.88057990C>A | GRCh38 |
| NC_000004.11:g.88979142C>A , CM000666.1:g.88979142C>A | GRCh37 |
| NC_000004.10:g.89198166C>A | NCBI36 |
| NG_008604.1:g.55323C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.1906C>A MANE Select | ENSP00000237596.2:p.Gln636Lys | |
| ENST00000237596.6:c.1906C>A | ENSP00000237596.2:p.Gln636Lys | |
| ENST00000502363.1:c.160C>A | ENSP00000425289.1:p.Gln54Lys | |
| ENST00000508588.5:c.160C>A | ENSP00000427131.1:p.Gln54Lys | |
| ENST00000511337.5:n.271+1723C>A | ||
| ENST00000512858.1:n.231+1723C>A | ||
| NM_000297.3:c.1906C>A | NP_000288.1:p.Gln636Lys | |
| XM_011532028.1:c.1681C>A | XP_011530330.1:p.Gln561Lys | |
| XM_011532029.1:c.1186C>A | XP_011530331.1:p.Gln396Lys | |
| XM_011532030.1:c.1066C>A | XP_011530332.1:p.Gln356Lys | |
| XR_244632.2:n.1993+1723C>A | ||
| NR_156488.1:n.1985+1723C>A | ||
| XM_011532028.2:c.1681C>A | XP_011530330.1:p.Gln561Lys | |
| XM_011532030.2:c.1066C>A | XP_011530332.1:p.Gln356Lys | |
| NM_000297.4:c.1906C>A MANE Select | NP_000288.1:p.Gln636Lys | |
| NR_156488.2:n.1997+1723C>A |