Linked Data
ClinVar Variation Id:
1101938
ClinVar RCV Id:
RCV001425043
dbSNP Id:
rs2110212664
gnomAD v4:
4-99583415-A-C
MyVariant Identifiers:
chr4:g.100504572A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99583415A>C , CM000666.2:g.99583415A>C | GRCh38 |
| NC_000004.11:g.100504572A>C , CM000666.1:g.100504572A>C | GRCh37 |
| NC_000004.10:g.100723595A>C | NCBI36 |
| NG_011469.1:g.24333A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265517.10:c.291A>C MANE Select | ENSP00000265517.5:p.Gly97= | |
| ENST00000457717.6:c.291A>C | ENSP00000400821.1:p.Gly97= | |
| ENST00000505094.6:c.42A>C | ENSP00000422782.2:p.Gly14= | |
| ENST00000511045.6:c.42A>C | ENSP00000427679.2:p.Gly14= | |
| ENST00000265517.9:c.291A>C | ENSP00000265517.5:p.Gly97= | |
| ENST00000422897.6:c.291A>C | ENSP00000407350.2:p.Gly97= | |
| ENST00000457717.5:c.291A>C | ENSP00000400821.1:p.Gly97= | |
| ENST00000505094.5:c.*381A>C | ENSP00000422782.1:n.*381A>C | |
| ENST00000506883.5:c.321A>C | ENSP00000426755.1:p.Gly107= | |
| ENST00000511045.5:c.372A>C | ENSP00000427679.1:p.Gly124= | |
| ENST00000513404.5:c.*354A>C | ENSP00000424972.1:n.*354A>C | |
| ENST00000515141.5:c.*354A>C | ENSP00000425642.1:n.*354A>C | |
| ENST00000619629.1:c.291A>C | ENSP00000482850.1:p.Gly97= | |
| NM_000253.3:c.291A>C | NP_000244.2:p.Gly97= | |
| NM_001300785.1:c.372A>C | NP_001287714.1:p.Gly124= | |
| NM_000253.4:c.291A>C | NP_000244.2:p.Gly97= | |
| NM_001300785.2:c.42A>C | NP_001287714.2:p.Gly14= | |
| NM_001386140.1:c.291A>C MANE Select | NP_001373069.1:p.Gly97= |