Linked Data
ClinVar Variation Id:
2919071
ClinVar RCV Id:
RCV003622383
dbSNP Id:
rs1327374643
gnomAD v2:
X-47433668-G-T
gnomAD v4:
X-47574269-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47574269G>T , CM000685.2:g.47574269G>T | GRCh38 |
| NC_000023.10:g.47433668G>T , CM000685.1:g.47433668G>T | GRCh37 |
| NC_000023.9:g.47318612G>T | NCBI36 |
| NG_008437.1:g.50589C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.1715C>A MANE Select | ENSP00000295987.7:p.Pro572Gln | |
| ENST00000340666.5:c.1715C>A | ENSP00000343206.4:p.Pro572Gln | |
| ENST00000640721.1:c.70+419C>A | ENSP00000492857.1:n.70+419C>A | |
| ENST00000295987.11:c.1715C>A | ENSP00000295987.7:p.Pro572Gln | |
| ENST00000340666.4:c.1715C>A | ENSP00000343206.4:p.Pro572Gln | |
| NM_006950.3:c.1715C>A MANE Select | NP_008881.2:p.Pro572Gln | |
| NM_133499.2:c.1715C>A | NP_598006.1:p.Pro572Gln |