Linked Data
ClinVar Variation Id:
431380
ClinVar RCV Id:
RCV000496512
dbSNP Id:
rs1135401951
gnomAD v4:
20-33443427-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33443427T>C , CM000682.2:g.33443427T>C | GRCh38 |
| NC_000020.10:g.32031233T>C , CM000682.1:g.32031233T>C | GRCh37 |
| NC_000020.9:g.31494894T>C | NCBI36 |
| NG_011622.1:g.5466A>G , LRG_332:g.5466A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217381.3:c.194A>G MANE Select | ENSP00000217381.2:p.Asn65Ser | |
| ENST00000217381.2:c.194A>G | ENSP00000217381.2:p.Asn65Ser | |
| NM_003098.2:c.194A>G , LRG_332t1:c.194A>G | NP_003089.1:p.Asn65Ser | |
| XM_005260517.1:c.194A>G | XP_005260574.1:p.Asn65Ser | |
| XM_011529007.1:c.194A>G | XP_011527309.1:p.Asn65Ser | |
| XM_011529008.1:c.194A>G | XP_011527310.1:p.Asn65Ser | |
| XR_936612.1:n.427A>G | ||
| NM_003098.3:c.194A>G MANE Select | NP_003089.1:p.Asn65Ser |