Revel Score:
ENST00000360608
0.023
ENST00000389970
0.023
ENST00000413640
0.023
ENST00000359033
0.023
ENST00000542856
0.023
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126612T>C , CM000684.2:g.42126612T>C | GRCh38 |
| NC_000022.10:g.42522614T>C , CM000684.1:g.42522614T>C | GRCh37 |
| NC_000022.9:g.40852558T>C | NCBI36 |
| NG_008376.3:g.8380A>G | |
| NG_008376.4:g.9199A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.1254A>G | ENSP00000353241.6:n.1254A>G | |
| ENST00000645361.2:c.1456A>G MANE Select | ENSP00000496150.1:p.Ser486Gly | |
| ENST00000359033.4:c.1303A>G | ENSP00000351927.4:p.Ser435Gly | |
| ENST00000360124.9:c.1074A>G | ENSP00000353241.5:n.1074A>G | |
| ENST00000360608.9:c.1456A>G | ENSP00000353820.5:p.Ser486Gly | |
| ENST00000389970.7:c.1447A>G | ENSP00000374620.4:p.Ser483Gly | |
| ENST00000488442.1:n.2180A>G | ||
| NM_000106.5:c.1456A>G | NP_000097.3:p.Ser486Gly | |
| NM_001025161.2:c.1303A>G | NP_001020332.2:p.Ser435Gly | |
| XM_011529966.1:c.1452+4A>G | XP_011528268.1:n.1452+4A>G | |
| XM_011529967.1:c.1452+4A>G | XP_011528269.1:n.1452+4A>G | |
| XM_011529968.1:c.1452+4A>G | XP_011528270.1:n.1452+4A>G | |
| XM_011529969.1:c.1308+4A>G | XP_011528271.1:n.1308+4A>G | |
| XM_011529970.1:c.1299+4A>G | XP_011528272.1:n.1299+4A>G | |
| XM_011529971.1:c.1312A>G | XP_011528273.1:p.Ser438Gly | |
| NM_000106.6:c.1456A>G MANE Select | NP_000097.3:p.Ser486Gly | |
| NM_001025161.3:c.1303A>G | NP_001020332.2:p.Ser435Gly |