Linked Data
ClinVar Variation Id:
1801726
ClinVar RCV Id:
RCV002463883
MyVariant Identifiers:
chr1:g.154963002C>T (hg19)
MutSpliceDB:
CA421237025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154990526C>T , CM000663.2:g.154990526C>T | GRCh38 |
| NC_000001.10:g.154963002C>T , CM000663.1:g.154963002C>T | GRCh37 |
| NC_000001.9:g.153229626C>T | NCBI36 |
| NG_042310.1:g.12233C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292180.8:c.1552C>T MANE Select | ENSP00000292180.3:p.Leu518= | |
| ENST00000292180.7:c.1552C>T | ENSP00000292180.3:p.Leu518= | |
| ENST00000295530.6:c.415+269C>T | ENSP00000295530.2:n.415+269C>T | |
| ENST00000315144.14:c.1261C>T | ENSP00000317296.10:p.Leu421= | |
| ENST00000368428.1:c.175C>T | ENSP00000357413.1:p.Leu59= | |
| ENST00000368432.5:c.1261C>T | ENSP00000357417.1:p.Leu421= | |
| ENST00000368433.5:c.*262C>T | ENSP00000357418.1:n.*262C>T | |
| ENST00000477609.5:n.233C>T | ||
| ENST00000489992.5:n.364+269C>T | ||
| NM_001184891.1:c.1261C>T | NP_001171820.1:p.Leu421= | |
| NM_025207.4:c.1552C>T | NP_079483.3:p.Leu518= | |
| NM_201398.2:c.1261C>T | NP_958800.1:p.Leu421= | |
| XM_005245502.2:c.1261C>T | XP_005245559.1:p.Leu421= | |
| XM_005245503.2:c.751C>T | XP_005245560.1:p.Leu251= | |
| XR_241098.3:n.1322C>T | ||
| NM_025207.5:c.1552C>T MANE Select | NP_079483.3:p.Leu518= | |
| NM_001184891.2:c.1261C>T | NP_001171820.1:p.Leu421= | |
| NM_201398.3:c.1261C>T | NP_958800.1:p.Leu421= |