Revel Score:
ENST00000370192 (MANE Select)
0.101
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97515839T>G , CM000663.2:g.97515839T>G | GRCh38 |
| NC_000001.10:g.97981395T>G , CM000663.1:g.97981395T>G | GRCh37 |
| NC_000001.9:g.97753983T>G | NCBI36 |
| NG_008807.2:g.410221A>C , LRG_722:g.410221A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1627A>C MANE Select | ENSP00000359211.3:p.Ile543Leu | |
| ENST00000370192.7:c.1627A>C | ENSP00000359211.3:p.Ile543Leu | |
| NM_000110.3:c.1627A>C , LRG_722t1:c.1627A>C | NP_000101.2:p.Ile543Leu | |
| XM_005270562.3:c.1524+33721A>C | XP_005270619.2:n.1524+33721A>C | |
| XM_006710397.2:c.1627A>C | XP_006710460.1:p.Ile543Leu | |
| XM_006710397.3:c.1627A>C | XP_006710460.1:p.Ile543Leu | |
| XM_017000507.1:c.1516A>C | XP_016855996.1:p.Ile506Leu | |
| XM_017000508.2:c.1132A>C | XP_016855997.1:p.Ile378Leu | |
| XM_017000509.2:c.1132A>C | XP_016855998.1:p.Ile378Leu | |
| XM_017000510.1:c.1132A>C | XP_016855999.1:p.Ile378Leu | |
| NM_000110.4:c.1627A>C MANE Select | NP_000101.2:p.Ile543Leu |