Linked Data
ClinVar Variation Id:
338207
dbSNP Id:
rs150740903
gnomAD v2:
20-31995971-G-A
gnomAD v3:
20-33408165-G-A
gnomAD v4:
20-33408165-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33408165G>A , CM000682.2:g.33408165G>A | GRCh38 |
| NC_000020.10:g.31995971G>A , CM000682.1:g.31995971G>A | GRCh37 |
| NC_000020.9:g.31459632G>A | NCBI36 |
| NG_011622.1:g.40728C>T , LRG_332:g.40728C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217381.3:c.*342C>T MANE Select | ENSP00000217381.2:n.*342C>T | |
| ENST00000217381.2:c.*342C>T | ENSP00000217381.2:n.*342C>T | |
| NM_003098.2:c.*342C>T , LRG_332t1:c.*342C>T | NP_003089.1:n.*342C>T | |
| XM_005260517.1:c.*342C>T | XP_005260574.1:n.*342C>T | |
| XM_011529007.1:c.*401C>T | XP_011527309.1:n.*401C>T | |
| XM_011529008.1:c.*401C>T | XP_011527310.1:n.*401C>T | |
| XR_936612.1:n.1896C>T | ||
| XM_024451971.1:c.*342C>T | XP_024307739.1:n.*342C>T | |
| NM_003098.3:c.*342C>T MANE Select | NP_003089.1:n.*342C>T |