Revel Score:
ENST00000336798
0.012
ENST00000339394 (MANE Select)
0.012
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000294 (NFE)
Exomes Max Group AF
0.00000312 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.30876800C>A , CM000663.2:g.30876800C>A | GRCh38 |
| NC_000001.10:g.31349647C>A , CM000663.1:g.31349647C>A | GRCh37 |
| NC_000001.9:g.31122234C>A | NCBI36 |
| NG_013371.1:g.36834G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339394.7:c.622G>T MANE Select | ENSP00000344468.6:p.Val208Leu | |
| ENST00000336798.11:c.448G>T | ENSP00000338346.7:p.Val150Leu | |
| ENST00000339394.6:c.622G>T | ENSP00000344468.6:p.Val208Leu | |
| ENST00000471567.1:n.556G>T | ||
| NM_014654.3:c.622G>T | NP_055469.3:p.Val208Leu | |
| XM_011542462.1:c.625G>T | XP_011540764.1:p.Val209Leu | |
| XM_011542463.1:c.589G>T | XP_011540765.1:p.Val197Leu | |
| XM_011542464.1:c.586G>T | XP_011540766.1:p.Val196Leu | |
| XM_011542465.1:c.547G>T | XP_011540767.1:p.Val183Leu | |
| XM_011542466.1:c.496G>T | XP_011540768.1:p.Val166Leu | |
| XM_011542464.2:c.586G>T | XP_011540766.1:p.Val196Leu | |
| NM_014654.4:c.622G>T MANE Select | NP_055469.3:p.Val208Leu |