Linked Data
dbSNP Id:
rs553166736
gnomAD v2:
22-45739969-A-T
gnomAD v3:
22-45344088-A-T
gnomAD v4:
22-45344088-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45344088A>T , CM000684.2:g.45344088A>T | GRCh38 |
| NC_000022.10:g.45739969A>T , CM000684.1:g.45739969A>T | GRCh37 |
| NC_000022.9:g.44118633A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357450.9:c.*468T>A MANE Select | ENSP00000350036.4:n.*468T>A | |
| ENST00000357450.8:c.4176T>A | ENSP00000350036.4:n.4176T>A | |
| NM_001291501.1:c.*468T>A | NP_001278430.1:n.*468T>A | |
| NM_148674.4:c.*468T>A | NP_683515.4:n.*468T>A | |
| XM_011530144.1:c.*468T>A | XP_011528446.1:n.*468T>A | |
| XR_244368.3:n.4165T>A | ||
| XM_011530144.2:c.*468T>A | XP_011528446.1:n.*468T>A | |
| XR_244368.4:n.4210T>A | ||
| NM_148674.5:c.*468T>A MANE Select | NP_683515.4:n.*468T>A | |
| NM_001291501.2:c.*468T>A | NP_001278430.1:n.*468T>A |