Revel Score:
ENST00000237596 (MANE Select)
0.607
ENST00000508588
0.607
ENST00000502363
0.607
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88058098C>G , CM000666.2:g.88058098C>G | GRCh38 |
| NC_000004.11:g.88979250C>G , CM000666.1:g.88979250C>G | GRCh37 |
| NC_000004.10:g.89198274C>G | NCBI36 |
| NG_008604.1:g.55431C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.2014C>G MANE Select | ENSP00000237596.2:p.Leu672Val | |
| ENST00000237596.6:c.2014C>G | ENSP00000237596.2:p.Leu672Val | |
| ENST00000502363.1:c.268C>G | ENSP00000425289.1:p.Leu90Val | |
| ENST00000508588.5:c.268C>G | ENSP00000427131.1:p.Leu90Val | |
| ENST00000511337.5:n.271+1831C>G | ||
| ENST00000512858.1:n.231+1831C>G | ||
| NM_000297.3:c.2014C>G | NP_000288.1:p.Leu672Val | |
| XM_011532028.1:c.1789C>G | XP_011530330.1:p.Leu597Val | |
| XM_011532029.1:c.1294C>G | XP_011530331.1:p.Leu432Val | |
| XM_011532030.1:c.1174C>G | XP_011530332.1:p.Leu392Val | |
| XR_244632.2:n.1993+1831C>G | ||
| NR_156488.1:n.1985+1831C>G | ||
| XM_011532028.2:c.1789C>G | XP_011530330.1:p.Leu597Val | |
| XM_011532030.2:c.1174C>G | XP_011530332.1:p.Leu392Val | |
| NM_000297.4:c.2014C>G MANE Select | NP_000288.1:p.Leu672Val | |
| NR_156488.2:n.1997+1831C>G |