Revel Score:
ENST00000458235 (MANE Select)
0.837
ENST00000527670
0.837
ENST00000534444
0.837
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17835160C>A , CM000681.2:g.17835160C>A | GRCh38 |
| NC_000019.9:g.17945969C>A , CM000681.1:g.17945969C>A | GRCh37 |
| NC_000019.8:g.17806969C>A | NCBI36 |
| NG_007273.1:g.17832G>T , LRG_77:g.17832G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*527G>T | ENSP00000513006.1:n.*527G>T | |
| ENST00000696967.1:n.1147G>T | ||
| ENST00000696970.1:n.625G>T | ||
| ENST00000458235.7:c.1970G>T MANE Select | ENSP00000391676.1:p.Arg657Leu | |
| ENST00000458235.5:c.1970G>T | ENSP00000391676.1:p.Arg657Leu | |
| ENST00000527031.5:n.2278+1567G>T | ||
| ENST00000527670.5:c.1970G>T | ENSP00000432511.1:p.Arg657Leu | |
| ENST00000534444.1:c.1970G>T | ENSP00000436421.1:p.Arg657Leu | |
| NM_000215.3:c.1970G>T , LRG_77t1:c.1970G>T | NP_000206.2:p.Arg657Leu | |
| XM_005259896.2:c.2099G>T | XP_005259953.1:p.Arg700Leu | |
| XM_006722745.2:c.1970G>T | XP_006722808.1:p.Arg657Leu | |
| XM_011527990.1:c.2099G>T | XP_011526292.1:p.Arg700Leu | |
| XR_430137.2:n.2109G>T | ||
| XM_005259896.3:c.2099G>T | XP_005259953.1:p.Arg700Leu | |
| NM_000215.4:c.1970G>T MANE Select | NP_000206.2:p.Arg657Leu |