Linked Data
ClinVar Variation Id:
2019344
ClinVar RCV Id:
RCV002871043
MyVariant Identifiers:
chr1:g.55319133C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54853460C>T , CM000663.2:g.54853460C>T | GRCh38 |
| NC_000001.10:g.55319133C>T , CM000663.1:g.55319133C>T | GRCh37 |
| NC_000001.9:g.55091721C>T | NCBI36 |
| NG_008839.1:g.38789G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371269.9:c.1371G>A MANE Select | ENSP00000360316.3:p.Leu457= | |
| ENST00000436604.2:c.1371G>A | ENSP00000416585.2:p.Leu457= | |
| ENST00000535035.6:c.1407G>A | ENSP00000440191.3:p.Leu469= | |
| ENST00000647585.1:n.1175G>A | ||
| ENST00000647912.1:c.*1006G>A | ENSP00000497559.1:n.*1006G>A | |
| ENST00000648712.1:n.1489G>A | ||
| ENST00000648728.1:c.*1026G>A | ENSP00000497084.1:n.*1026G>A | |
| ENST00000649769.1:c.*1026G>A | ENSP00000498012.1:n.*1026G>A | |
| ENST00000371269.7:c.1371G>A | ENSP00000360316.3:p.Leu457= | |
| ENST00000436604.1:c.283G>A | ||
| ENST00000535035.5:c.1104G>A | ENSP00000440191.2:p.Leu368= | |
| NM_014762.3:c.1371G>A | NP_055577.1:p.Leu457= | |
| NM_014762.4:c.1371G>A MANE Select | NP_055577.1:p.Leu457= |