Linked Data
ClinVar Variation Id:
569730
ClinVar RCV Id:
RCV000690432
dbSNP Id:
rs1564190486
gnomAD v4:
9-136504901-C-A
COSMIC:
COSM308622
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504901C>A , CM000671.2:g.136504901C>A | GRCh38 |
| NC_000009.11:g.139399353C>A , CM000671.1:g.139399353C>A | GRCh37 |
| NC_000009.10:g.138519174C>A | NCBI36 |
| NG_007458.1:g.45886G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2597G>T | ||
| ENST00000651671.1:c.4790G>T MANE Select | ENSP00000498587.1:p.Ser1597Ile | |
| ENST00000679595.1:c.4790G>T | ENSP00000506241.1:p.Ser1597Ile | |
| ENST00000680133.1:c.4676G>T | ENSP00000505319.1:p.Ser1559Ile | |
| ENST00000680218.1:c.4670G>T | ENSP00000505339.1:p.Ser1557Ile | |
| ENST00000680668.1:c.4676G>T | ENSP00000506336.1:p.Ser1559Ile | |
| ENST00000680778.1:c.2387G>T | ENSP00000506033.1:p.Ser796Ile | |
| ENST00000680924.1:c.*2190G>T | ENSP00000506031.1:n.*2190G>T | |
| ENST00000681135.1:c.*2399G>T | ENSP00000506636.1:n.*2399G>T | |
| ENST00000681298.1:n.1603G>T | ||
| ENST00000681454.1:c.*4026G>T | ENSP00000505763.1:n.*4026G>T | |
| ENST00000277541.6:c.4790G>T | ENSP00000277541.6:p.Ser1597Ile | |
| NM_017617.3:c.4790G>T | NP_060087.3:p.Ser1597Ile | |
| XM_011518717.1:c.4091G>T | XP_011517019.1:p.Ser1364Ile | |
| NM_017617.5:c.4790G>T MANE Select | NP_060087.3:p.Ser1597Ile | |
| XM_011518717.2:c.4067G>T | XP_011517019.2:p.Ser1356Ile |