Linked Data
ClinVar Variation Id:
191506
dbSNP Id:
rs786205426
gnomAD v2:
20-31996333-G-A
gnomAD v3:
20-33408527-G-A
gnomAD v4:
20-33408527-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33408527G>A , CM000682.2:g.33408527G>A | GRCh38 |
| NC_000020.10:g.31996333G>A , CM000682.1:g.31996333G>A | GRCh37 |
| NC_000020.9:g.31459994G>A | NCBI36 |
| NG_011622.1:g.40366C>T , LRG_332:g.40366C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217381.3:c.1498C>T MANE Select | ENSP00000217381.2:p.Arg500Cys | |
| ENST00000217381.2:c.1498C>T | ENSP00000217381.2:p.Arg500Cys | |
| NM_003098.2:c.1498C>T , LRG_332t1:c.1498C>T | NP_003089.1:p.Arg500Cys | |
| XM_005260517.1:c.1495C>T | XP_005260574.1:p.Arg499Cys | |
| XM_011529007.1:c.*39C>T | XP_011527309.1:n.*39C>T | |
| XM_011529008.1:c.*39C>T | XP_011527310.1:n.*39C>T | |
| XR_936612.1:n.1534C>T | ||
| XM_024451971.1:c.1171C>T | XP_024307739.1:p.Arg391Cys | |
| NM_003098.3:c.1498C>T MANE Select | NP_003089.1:p.Arg500Cys |