Linked Data
ClinVar Variation Id:
1081265
ClinVar RCV Id:
RCV001397211
dbSNP Id:
rs2150736847
gnomAD v4:
4-122742975-T-A
COSMIC:
COSM5447594
MyVariant Identifiers:
chr4:g.123664130T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122742975T>A , CM000666.2:g.122742975T>A | GRCh38 |
| NC_000004.11:g.123664130T>A , CM000666.1:g.123664130T>A | GRCh37 |
| NC_000004.10:g.123883580T>A | NCBI36 |
| NG_021203.1:g.15274T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314218.8:c.1083T>A MANE Select | ENSP00000319062.3:p.Gly361= | |
| ENST00000314218.7:c.1083T>A | ENSP00000319062.3:p.Gly361= | |
| ENST00000542236.5:c.1083T>A | ENSP00000438273.1:p.Gly361= | |
| NM_001178007.1:c.1083T>A | NP_001171478.1:p.Gly361= | |
| NM_152618.2:c.1083T>A | NP_689831.2:p.Gly361= | |
| XM_011531680.1:c.1083T>A | XP_011529982.1:p.Gly361= | |
| XM_011531680.2:c.1083T>A | XP_011529982.1:p.Gly361= | |
| XM_017007831.1:c.1083T>A | XP_016863320.1:p.Gly361= | |
| NM_152618.3:c.1083T>A MANE Select | NP_689831.2:p.Gly361= | |
| NM_001178007.2:c.1083T>A | NP_001171478.1:p.Gly361= |