Linked Data
ClinVar Variation Id:
468245
dbSNP Id:
rs201442000
gnomAD v2:
5-172662022-T-G
gnomAD v3:
5-173235019-T-G
gnomAD v4:
5-173235019-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173235019T>G , CM000667.2:g.173235019T>G | GRCh38 |
| NC_000005.9:g.172662022T>G , CM000667.1:g.172662022T>G | GRCh37 |
| NC_000005.8:g.172594628T>G | NCBI36 |
| NG_013340.1:g.5294A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.65A>C MANE Select | ENSP00000327758.4:p.Gln22Pro | |
| ENST00000329198.4:c.65A>C | ENSP00000327758.4:p.Gln22Pro | |
| ENST00000424406.2:c.65A>C | ENSP00000395378.2:p.Gln22Pro | |
| ENST00000517440.1:c.65A>C | ENSP00000429905.1:p.Gln22Pro | |
| ENST00000521848.1:c.65A>C | ENSP00000427906.1:p.Gln22Pro | |
| NM_001166175.1:c.65A>C | NP_001159647.1:p.Gln22Pro | |
| NM_001166176.1:c.65A>C | NP_001159648.1:p.Gln22Pro | |
| NM_004387.3:c.65A>C | NP_004378.1:p.Gln22Pro | |
| XM_017009071.2:c.65A>C | XP_016864560.1:p.Gln22Pro | |
| NM_004387.4:c.65A>C MANE Select | NP_004378.1:p.Gln22Pro | |
| NM_001166175.2:c.65A>C | NP_001159647.1:p.Gln22Pro | |
| NM_001166176.2:c.65A>C | NP_001159648.1:p.Gln22Pro |