Linked Data
ClinVar Variation Id:
2017995
ClinVar RCV Id:
RCV002861777
dbSNP Id:
rs751096438
gnomAD v2:
22-50662867-G-A
gnomAD v4:
22-50224438-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50224438G>A , CM000684.2:g.50224438G>A | GRCh38 |
| NC_000022.10:g.50662867G>A , CM000684.1:g.50662867G>A | GRCh37 |
| NC_000022.9:g.49004994G>A | NCBI36 |
| NG_032160.1:g.25534C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.2066-18C>T MANE Select | ENSP00000248846.5:n.2066-18C>T | |
| ENST00000248846.9:c.2066-18C>T | ENSP00000248846.5:n.2066-18C>T | |
| ENST00000439308.6:c.2066-18C>T | ENSP00000397387.2:n.2066-18C>T | |
| ENST00000473946.1:n.375-18C>T | ||
| ENST00000489511.5:n.83-18C>T | ||
| ENST00000491449.5:n.373-18C>T | ||
| ENST00000498611.5:n.2599-18C>T | ||
| NM_020461.3:c.2066-18C>T | NP_065194.2:n.2066-18C>T | |
| XR_938347.1:n.2631-18C>T | ||
| XR_938348.1:n.2631-18C>T | ||
| XR_001755343.2:n.2635-18C>T | ||
| XR_001755344.2:n.2635-18C>T | ||
| XR_002958720.1:n.2635-18C>T | ||
| XR_938347.2:n.2635-18C>T | ||
| NM_020461.4:c.2066-18C>T MANE Select | NP_065194.3:n.2066-18C>T |