Linked Data
ClinVar Variation Id:
2940088
ClinVar RCV Id:
RCV003797446
MyVariant Identifiers:
chr4:g.5620292G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5618565G>A , CM000666.2:g.5618565G>A | GRCh38 |
| NC_000004.11:g.5620292G>A , CM000666.1:g.5620292G>A | GRCh37 |
| NC_000004.10:g.5671193G>A | NCBI36 |
| NG_015821.1:g.95984C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.2619C>T MANE Select | ENSP00000342144.5:p.Ala873= | |
| ENST00000310917.6:c.2379C>T | ENSP00000311683.2:p.Ala793= | |
| ENST00000344408.9:c.2619C>T | ENSP00000342144.5:p.Ala873= | |
| ENST00000475313.5:c.2379C>T | ENSP00000431981.1:p.Ala793= | |
| ENST00000509670.1:c.*1012C>T | ENSP00000423876.1:n.*1012C>T | |
| NM_001166136.1:c.2379C>T | NP_001159608.1:p.Ala793= | |
| NM_147127.4:c.2619C>T | NP_667338.3:p.Ala873= | |
| XM_011513392.1:c.2628C>T | XP_011511694.1:p.Ala876= | |
| XM_011513393.1:c.2628C>T | XP_011511695.1:p.Ala876= | |
| XM_011513394.1:c.2388C>T | XP_011511696.1:p.Ala796= | |
| XM_017007736.1:c.2379C>T | XP_016863225.1:p.Ala793= | |
| XM_017007737.1:c.2379C>T | XP_016863226.1:p.Ala793= | |
| XM_017007738.1:c.2619C>T | XP_016863227.1:p.Ala873= | |
| XM_017007739.1:c.939C>T | XP_016863228.1:p.Ala313= | |
| XM_024453893.1:c.939C>T | XP_024309661.1:p.Ala313= | |
| XR_001741141.1:n.2684C>T | ||
| NM_147127.5:c.2619C>T MANE Select | NP_667338.3:p.Ala873= | |
| NM_001166136.2:c.2379C>T | NP_001159608.1:p.Ala793= |