Linked Data
ClinVar Variation Id:
17553
ClinVar RCV Id:
RCV000019108
dbSNP Id:
rs121912795
gnomAD v4:
2-174824478-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174824478G>A , CM000664.2:g.174824478G>A | GRCh38 |
| NC_000002.11:g.175689206G>A , CM000664.1:g.175689206G>A | GRCh37 |
| NC_000002.10:g.175397452G>A | NCBI36 |
| NG_012642.1:g.185965C>T | |
| NG_012642.2:g.185965C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295497.13:c.293C>T | ENSP00000295497.7:p.Ala98Val | |
| ENST00000444394.7:c.293C>T | ENSP00000411911.2:p.Ala98Val | |
| ENST00000295497.12:c.293C>T | ENSP00000295497.7:p.Ala98Val | |
| ENST00000409089.7:c.-8C>T | ENSP00000386322.3:n.-8C>T | |
| ENST00000409900.9:c.668C>T MANE Select | ENSP00000386741.4:p.Ala223Val | |
| ENST00000413882.6:c.122C>T | ENSP00000410496.2:p.Ala41Val | |
| ENST00000425395.6:c.*115C>T | ENSP00000405270.2:n.*115C>T | |
| ENST00000443238.6:c.146C>T | ENSP00000409798.2:p.Ala49Val | |
| ENST00000444394.6:c.293C>T | ENSP00000411911.2:p.Ala98Val | |
| ENST00000444573.2:c.512C>T | ENSP00000392603.2:p.Ala171Val | |
| ENST00000488080.6:n.311C>T | ||
| ENST00000650731.1:c.-8C>T | ENSP00000499146.1:n.-8C>T | |
| ENST00000650938.1:c.192C>T | ||
| ENST00000651246.1:c.260C>T | ENSP00000498484.1:p.Ala87Val | |
| ENST00000651373.1:c.182C>T | ENSP00000499174.1:p.Ala61Val | |
| ENST00000651501.1:c.*115C>T | ENSP00000498894.1:n.*115C>T | |
| ENST00000651717.1:c.253-11996C>T | ENSP00000499124.1:n.253-11996C>T | |
| ENST00000652036.1:c.293C>T | ENSP00000499139.1:p.Ala98Val | |
| ENST00000652154.1:n.566C>T | ||
| ENST00000295497.11:c.293C>T | ENSP00000295497.7:p.Ala98Val | |
| ENST00000409089.6:c.-8C>T | ENSP00000386322.2:n.-8C>T | |
| ENST00000409156.7:c.590C>T | ENSP00000386470.3:p.Ala197Val | |
| ENST00000409597.5:c.116C>T | ENSP00000386469.1:p.Ala39Val | |
| ENST00000409900.7:c.668C>T | ENSP00000386741.3:p.Ala223Val | |
| ENST00000413882.5:c.122C>T | ENSP00000410496.1:p.Ala41Val | |
| ENST00000425395.5:c.*219C>T | ENSP00000405270.1:n.*219C>T | |
| ENST00000443238.5:c.146C>T | ENSP00000409798.1:p.Ala49Val | |
| ENST00000444394.5:c.-8C>T | ENSP00000411911.1:n.-8C>T | |
| ENST00000444573.1:c.293C>T | ENSP00000392603.1:p.Ala98Val | |
| ENST00000485882.1:n.127C>T | ||
| ENST00000488080.5:n.519C>T | ||
| NM_001025201.3:c.590C>T | NP_001020372.2:p.Ala197Val | |
| NM_001206602.1:c.293C>T | NP_001193531.1:p.Ala98Val | |
| NM_001822.5:c.668C>T | NP_001813.1:p.Ala223Val | |
| NR_038133.1:n.534C>T | ||
| NM_001025201.4:c.590C>T | NP_001020372.2:p.Ala197Val | |
| NM_001206602.2:c.293C>T | NP_001193531.1:p.Ala98Val | |
| NM_001371513.1:c.668C>T | NP_001358442.1:p.Ala223Val | |
| NM_001371514.1:c.719C>T | NP_001358443.1:p.Ala240Val | |
| NM_001822.7:c.668C>T MANE Select | NP_001813.1:p.Ala223Val | |
| NR_038133.2:n.536C>T |