Linked Data
ClinVar Variation Id:
1466747
dbSNP Id:
rs753712951
ExAC:
X:38226555 C / A
gnomAD v2:
X-38226555-C-A
gnomAD v3:
X-38367302-C-A
gnomAD v4:
X-38367302-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367302C>A , CM000685.2:g.38367302C>A | GRCh38 |
| NC_000023.10:g.38226555C>A , CM000685.1:g.38226555C>A | GRCh37 |
| NC_000023.9:g.38111499C>A | NCBI36 |
| NG_008471.1:g.19820C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.89C>A MANE Select | ENSP00000039007.4:p.Pro30Gln | |
| ENST00000643344.1:c.89C>A | ENSP00000496606.1:p.Pro30Gln | |
| ENST00000039007.4:c.89C>A | ENSP00000039007.4:p.Pro30Gln | |
| ENST00000465127.1:c.172-298819C>A | ENSP00000417050.1:n.172-298819C>A | |
| ENST00000488812.1:n.181C>A | ||
| NM_000531.5:c.89C>A | NP_000522.3:p.Pro30Gln | |
| XM_017029556.1:c.89C>A | XP_016885045.1:p.Pro30Gln | |
| NM_000531.6:c.89C>A MANE Select | NP_000522.3:p.Pro30Gln |