Revel Score:
ENST00000262418 (MANE Select)
0.232
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44255804C>G , CM000679.2:g.44255804C>G | GRCh38 |
| NC_000017.10:g.42333172C>G , CM000679.1:g.42333172C>G | GRCh37 |
| NC_000017.9:g.39688698C>G | NCBI36 |
| NG_007498.1:g.17331G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.1669G>C MANE Select | ENSP00000262418.6:p.Val557Leu | |
| ENST00000262418.10:c.1669G>C | ENSP00000262418.6:p.Val557Leu | |
| ENST00000399246.3:c.778-583G>C | ENSP00000382190.3:n.778-583G>C | |
| NM_000342.3:c.1669G>C | NP_000333.1:p.Val557Leu | |
| XM_005257593.3:c.1474G>C | XP_005257650.1:p.Val492Leu | |
| XM_011525129.1:c.1669G>C | XP_011523431.1:p.Val557Leu | |
| XM_011525130.1:c.1669G>C | XP_011523432.1:p.Val557Leu | |
| XM_011525131.1:c.1669G>C | XP_011523433.1:p.Val557Leu | |
| XM_005257593.5:c.1474G>C | XP_005257650.1:p.Val492Leu | |
| XM_011525129.2:c.1669G>C | XP_011523431.1:p.Val557Leu | |
| NM_000342.4:c.1669G>C MANE Select | NP_000333.1:p.Val557Leu |