Linked Data
ClinVar Variation Id:
409040
ClinVar RCV Id:
RCV000461898
dbSNP Id:
rs1060502234
gnomAD v4:
9-136497222-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497222C>T , CM000671.2:g.136497222C>T | GRCh38 |
| NC_000009.11:g.139391674C>T , CM000671.1:g.139391674C>T | GRCh37 |
| NC_000009.10:g.138511495C>T | NCBI36 |
| NG_007458.1:g.53565G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6517G>A MANE Select | ENSP00000498587.1:p.Ala2173Thr | |
| ENST00000679595.1:c.*1557G>A | ENSP00000506241.1:n.*1557G>A | |
| ENST00000679969.1:n.3113G>A | ||
| ENST00000680003.1:n.2849G>A | ||
| ENST00000680133.1:c.6403G>A | ENSP00000505319.1:p.Ala2135Thr | |
| ENST00000680218.1:c.6397G>A | ENSP00000505339.1:p.Ala2133Thr | |
| ENST00000680668.1:c.6403G>A | ENSP00000506336.1:p.Ala2135Thr | |
| ENST00000680778.1:c.4114G>A | ENSP00000506033.1:p.Ala1372Thr | |
| ENST00000680924.1:c.*3917G>A | ENSP00000506031.1:n.*3917G>A | |
| ENST00000681135.1:c.*4126G>A | ENSP00000506636.1:n.*4126G>A | |
| ENST00000681298.1:n.4622G>A | ||
| ENST00000681454.1:c.*5753G>A | ENSP00000505763.1:n.*5753G>A | |
| ENST00000277541.6:c.6517G>A | ENSP00000277541.6:p.Ala2173Thr | |
| NM_017617.3:c.6517G>A | NP_060087.3:p.Ala2173Thr | |
| XM_011518717.1:c.5818G>A | XP_011517019.1:p.Ala1940Thr | |
| NM_017617.5:c.6517G>A MANE Select | NP_060087.3:p.Ala2173Thr | |
| XM_011518717.2:c.5794G>A | XP_011517019.2:p.Ala1932Thr |