Linked Data
ClinVar Variation Id:
2694043
ClinVar RCV Id:
RCV003543961
MyVariant Identifiers:
chr4:g.100504662A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99583505A>G , CM000666.2:g.99583505A>G | GRCh38 |
| NC_000004.11:g.100504662A>G , CM000666.1:g.100504662A>G | GRCh37 |
| NC_000004.10:g.100723685A>G | NCBI36 |
| NG_011469.1:g.24423A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.381A>G MANE Select | ENSP00000265517.5:p.Leu127= | |
| ENST00000457717.6:c.381A>G | ENSP00000400821.1:p.Leu127= | |
| ENST00000511045.6:c.132A>G | ENSP00000427679.2:p.Leu44= | |
| ENST00000265517.9:c.381A>G | ENSP00000265517.5:p.Leu127= | |
| ENST00000422897.6:c.381A>G | ENSP00000407350.2:p.Leu127= | |
| ENST00000457717.5:c.381A>G | ENSP00000400821.1:p.Leu127= | |
| ENST00000506883.5:c.411A>G | ENSP00000426755.1:p.Leu137= | |
| ENST00000511045.5:c.462A>G | ENSP00000427679.1:p.Leu154= | |
| ENST00000619629.1:c.381A>G | ENSP00000482850.1:p.Leu127= | |
| NM_000253.3:c.381A>G | NP_000244.2:p.Leu127= | |
| NM_001300785.1:c.462A>G | NP_001287714.1:p.Leu154= | |
| NM_000253.4:c.381A>G | NP_000244.2:p.Leu127= | |
| NM_001300785.2:c.132A>G | NP_001287714.2:p.Leu44= | |
| NM_001386140.1:c.381A>G MANE Select | NP_001373069.1:p.Leu127= |