Revel Score:
ENST00000468300
0.172
ENST00000357654 (MANE Select)
0.650
ENST00000412061
0.650
ENST00000354071
0.650
ENST00000352993
0.650
ENST00000346315
0.650
ENST00000351666
0.650
ENST00000309486
0.650
ENST00000393691
0.650
ENST00000471181
0.650
ENST00000493795
0.650
ENST00000491747
0.650
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43047685C>G , CM000679.2:g.43047685C>G | GRCh38 |
| NC_000017.10:g.41199702C>G , CM000679.1:g.41199702C>G | GRCh37 |
| NC_000017.9:g.38453228C>G | NCBI36 |
| NG_005905.2:g.170299G>C , LRG_292:g.170299G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5422G>C | ENSP00000417241.2:p.Val1808Leu | |
| ENST00000470026.6:c.5425G>C | ENSP00000419274.2:p.Val1809Leu | |
| ENST00000473961.6:c.5299G>C | ENSP00000420201.2:p.Val1767Leu | |
| ENST00000476777.6:c.5419G>C | ENSP00000417554.2:p.Val1807Leu | |
| ENST00000477152.6:c.5347G>C | ENSP00000419988.2:p.Val1783Leu | |
| ENST00000478531.6:c.2113G>C | ENSP00000420412.2:p.Val705Leu | |
| ENST00000489037.2:c.5347G>C | ENSP00000420781.2:p.Val1783Leu | |
| ENST00000493919.6:c.1975G>C | ENSP00000418819.2:p.Val659Leu | |
| ENST00000494123.6:c.5425G>C | ENSP00000419103.2:p.Val1809Leu | |
| ENST00000497488.2:c.4537G>C | ENSP00000418986.2:p.Val1513Leu | |
| ENST00000618469.2:c.5425G>C | ENSP00000478114.2:p.Val1809Leu | |
| ENST00000634433.2:c.5302G>C | ENSP00000489431.2:p.Val1768Leu | |
| ENST00000644379.2:c.5491G>C | ENSP00000496570.2:p.Val1831Leu | |
| ENST00000644555.2:c.1975G>C | ENSP00000494614.2:p.Val659Leu | |
| ENST00000652672.2:c.5284G>C | ENSP00000498906.2:p.Val1762Leu | |
| ENST00000484087.6:c.1987G>C | ENSP00000419481.2:p.Val663Leu | |
| ENST00000700081.1:n.1308G>C | ||
| ENST00000700082.1:n.789G>C | ||
| ENST00000357654.9:c.5425G>C MANE Select | ENSP00000350283.3:p.Val1809Leu | |
| ENST00000471181.7:c.5488G>C | ENSP00000418960.2:p.Val1830Leu | |
| ENST00000644379.1:c.1812G>C | ||
| ENST00000352993.7:c.1999G>C | ENSP00000312236.5:p.Val667Leu | |
| ENST00000357654.7:c.5425G>C | ENSP00000350283.3:p.Val1809Leu | |
| ENST00000461221.5:c.*5208G>C | ENSP00000418548.1:n.*5208G>C | |
| ENST00000468300.5:c.2039G>C | ENSP00000417148.1:p.Gly680Ala | |
| ENST00000471181.6:c.5488G>C | ENSP00000418960.2:p.Val1830Leu | |
| ENST00000491747.6:c.2113G>C | ENSP00000420705.2:p.Val705Leu | |
| ENST00000493795.5:c.5284G>C | ENSP00000418775.1:p.Val1762Leu | |
| ENST00000586385.5:c.355G>C | ENSP00000465818.1:p.Val119Leu | |
| ENST00000591534.5:c.898G>C | ENSP00000467329.1:p.Val300Leu | |
| ENST00000591849.5:c.124G>C | ENSP00000465347.1:p.Val42Leu | |
| NM_007294.3:c.5425G>C , LRG_292t1:c.5425G>C | NP_009225.1:p.Val1809Leu | |
| NM_007297.3:c.5284G>C | NP_009228.2:p.Val1762Leu | |
| NM_007298.3:c.2113G>C | NP_009229.2:p.Val705Leu | |
| NM_007299.3:c.2039G>C | NP_009230.2:p.Gly680Ala | |
| NM_007300.3:c.5488G>C | NP_009231.2:p.Val1830Leu | |
| NR_027676.1:n.5561G>C | ||
| NM_007294.4:c.5425G>C MANE Select | NP_009225.1:p.Val1809Leu | |
| NM_007297.4:c.5284G>C | NP_009228.2:p.Val1762Leu | |
| NM_007299.4:c.2039G>C | NP_009230.2:p.Gly680Ala | |
| NM_007300.4:c.5488G>C | NP_009231.2:p.Val1830Leu | |
| NR_027676.2:n.5602G>C |