Linked Data
ClinVar Variation Id:
129486
dbSNP Id:
rs34224885
ExAC:
5:126140540 G / A
gnomAD v2:
5-126140540-G-A
gnomAD v3:
5-126804848-G-A
gnomAD v4:
5-126804848-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126804848G>A , CM000667.2:g.126804848G>A | GRCh38 |
| NC_000005.9:g.126140540G>A , CM000667.1:g.126140540G>A | GRCh37 |
| NC_000005.8:g.126168439G>A | NCBI36 |
| NG_008360.2:g.32708G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261366.10:c.432G>A MANE Select | ENSP00000261366.5:p.Ser144= | |
| ENST00000261366.9:c.432G>A | ENSP00000261366.5:p.Ser144= | |
| ENST00000395354.1:c.432G>A | ENSP00000378761.1:p.Ser144= | |
| ENST00000460265.5:c.432G>A | ENSP00000486528.1:p.Ser144= | |
| ENST00000463908.2:n.271G>A | ||
| ENST00000472034.5:n.165G>A | ||
| ENST00000492190.5:c.432G>A | ENSP00000486992.1:p.Ser144= | |
| ENST00000504788.5:n.165G>A | ||
| NM_001198557.1:c.-199G>A | NP_001185486.1:n.-199G>A | |
| NM_005573.3:c.432G>A | NP_005564.1:p.Ser144= | |
| XR_948250.1:n.796G>A | ||
| NR_134488.1:n.1318G>A | ||
| NM_005573.4:c.432G>A MANE Select | NP_005564.1:p.Ser144= | |
| NM_001198557.2:c.-199G>A | NP_001185486.1:n.-199G>A |