Linked Data
ClinVar Variation Id:
2864554
ClinVar RCV Id:
RCV003697340
MyVariant Identifiers:
chr5:g.33947361C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33947256C>T , CM000667.2:g.33947256C>T | GRCh38 |
| NC_000005.9:g.33947361C>T , CM000667.1:g.33947361C>T | GRCh37 |
| NC_000005.8:g.33983118C>T | NCBI36 |
| NG_011691.2:g.42420G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1275G>A MANE Select | ENSP00000296589.4:p.Leu425= | |
| ENST00000296589.8:c.1275G>A | ENSP00000296589.4:p.Leu425= | |
| ENST00000382102.7:c.1275G>A | ENSP00000371534.3:p.Leu425= | |
| NM_001012509.3:c.1275G>A | NP_001012527.1:p.Leu425= | |
| NM_016180.4:c.1275G>A | NP_057264.3:p.Leu425= | |
| XM_011514051.1:c.873G>A | XP_011512353.1:p.Leu291= | |
| NM_016180.5:c.1275G>A MANE Select | NP_057264.4:p.Leu425= | |
| NM_001012509.4:c.1275G>A | NP_001012527.2:p.Leu425= |