Linked Data
ClinVar Variation Id:
3172215
ClinVar RCV Id:
RCV004461157
dbSNP Id:
rs963703194
gnomAD v3:
9-133352470-G-A
gnomAD v4:
9-133352470-G-A
MyVariant Identifiers:
chr9:g.133352470G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352470G>A , CM000671.2:g.133352470G>A | GRCh38 |
| NC_000009.10:g.135209146G>A | NCBI36 |
| NG_008477.1:g.9037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.727C>T MANE Select | ENSP00000361042.3:p.Pro243Ser | |
| ENST00000371974.7:c.727C>T | ENSP00000361042.3:p.Pro243Ser | |
| ENST00000437995.1:n.637C>T | ||
| ENST00000495952.5:n.717C>T | ||
| ENST00000615505.4:c.400C>T | ENSP00000482067.1:p.Pro134Ser | |
| NM_001280787.1:c.400C>T | NP_001267716.1:p.Pro134Ser | |
| NM_003172.3:c.727C>T | NP_003163.1:p.Pro243Ser | |
| XM_011518942.1:c.400C>T | XP_011517244.1:p.Pro134Ser | |
| NM_003172.4:c.727C>T MANE Select | NP_003163.1:p.Pro243Ser |