Linked Data
ClinVar Variation Id:
338209
dbSNP Id:
rs78892511
gnomAD v2:
20-31996234-G-T
gnomAD v3:
20-33408428-G-T
gnomAD v4:
20-33408428-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33408428G>T , CM000682.2:g.33408428G>T | GRCh38 |
| NC_000020.10:g.31996234G>T , CM000682.1:g.31996234G>T | GRCh37 |
| NC_000020.9:g.31459895G>T | NCBI36 |
| NG_011622.1:g.40465C>A , LRG_332:g.40465C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.*79C>A MANE Select | ENSP00000217381.2:n.*79C>A | |
| ENST00000217381.2:c.*79C>A | ENSP00000217381.2:n.*79C>A | |
| NM_003098.2:c.*79C>A , LRG_332t1:c.*79C>A | NP_003089.1:n.*79C>A | |
| XM_005260517.1:c.*79C>A | XP_005260574.1:n.*79C>A | |
| XM_011529007.1:c.*138C>A | XP_011527309.1:n.*138C>A | |
| XM_011529008.1:c.*138C>A | XP_011527310.1:n.*138C>A | |
| XR_936612.1:n.1633C>A | ||
| XM_024451971.1:c.*79C>A | XP_024307739.1:n.*79C>A | |
| NM_003098.3:c.*79C>A MANE Select | NP_003089.1:n.*79C>A |