Linked Data
ClinVar Variation Id:
901045
ClinVar RCV Id:
RCV001146688
dbSNP Id:
rs531209490
gnomAD v2:
22-32870893-C-T
gnomAD v3:
22-32474906-C-T
gnomAD v4:
22-32474906-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32474906C>T , CM000684.2:g.32474906C>T | GRCh38 |
| NC_000022.10:g.32870893C>T , CM000684.1:g.32870893C>T | GRCh37 |
| NC_000022.9:g.31200893C>T | NCBI36 |
| NG_016001.1:g.5187C>T | |
| NG_016001.2:g.5187C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.-97C>T MANE Select | ENSP00000266087.7:n.-97C>T | |
| ENST00000266087.11:c.-97C>T | ENSP00000266087.7:n.-97C>T | |
| ENST00000420700.5:c.-97C>T | ENSP00000406155.1:n.-97C>T | |
| ENST00000425028.5:c.-97C>T | ENSP00000395823.1:n.-97C>T | |
| NM_012179.3:c.-97C>T | NP_036311.3:n.-97C>T | |
| XM_011530106.1:c.-270C>T | XP_011528408.1:n.-270C>T | |
| XM_024452207.1:c.-287C>T | XP_024307975.1:n.-287C>T | |
| NM_012179.4:c.-97C>T MANE Select | NP_036311.3:n.-97C>T |