Linked Data
ClinVar Variation Id:
1025113
ClinVar RCV Id:
RCV001325390
dbSNP Id:
rs909274169
gnomAD v2:
22-50658899-G-T
gnomAD v3:
22-50220470-G-T
gnomAD v4:
22-50220470-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220470G>T , CM000684.2:g.50220470G>T | GRCh38 |
| NC_000022.10:g.50658899G>T , CM000684.1:g.50658899G>T | GRCh37 |
| NC_000022.9:g.49001026G>T | NCBI36 |
| NG_032160.1:g.29502C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3889C>A MANE Select | ENSP00000248846.5:p.Pro1297Thr | |
| ENST00000248846.9:c.3889C>A | ENSP00000248846.5:p.Pro1297Thr | |
| ENST00000439308.6:c.3889C>A | ENSP00000397387.2:p.Pro1297Thr | |
| ENST00000491449.5:n.2196C>A | ||
| ENST00000498611.5:n.3618-455C>A | ||
| NM_020461.3:c.3889C>A | NP_065194.2:p.Pro1297Thr | |
| XR_938347.1:n.4454C>A | ||
| XR_938348.1:n.3050-455C>A | ||
| XR_001755343.2:n.4458C>A | ||
| XR_001755344.2:n.4458C>A | ||
| XR_002958720.1:n.3054-455C>A | ||
| XR_938347.2:n.4458C>A | ||
| NM_020461.4:c.3889C>A MANE Select | NP_065194.3:p.Pro1297Thr |