Linked Data
ClinVar Variation Id:
341240
ClinVar RCV Id:
RCV000328162
dbSNP Id:
rs376255565
ExAC:
22:32477924 C / T
gnomAD v2:
22-32477924-C-T
gnomAD v3:
22-32081937-C-T
gnomAD v4:
22-32081937-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32081937C>T , CM000684.2:g.32081937C>T | GRCh38 |
| NC_000022.10:g.32477924C>T , CM000684.1:g.32477924C>T | GRCh37 |
| NC_000022.9:g.30807924C>T | NCBI36 |
| NG_017045.1:g.43906C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.549C>T MANE Select | ENSP00000266088.4:p.Leu183= | |
| ENST00000266088.8:c.549C>T | ENSP00000266088.4:p.Leu183= | |
| ENST00000543737.2:c.168C>T | ENSP00000444898.1:p.Leu56= | |
| NM_000343.3:c.549C>T | NP_000334.1:p.Leu183= | |
| NM_001256314.1:c.168C>T | NP_001243243.1:p.Leu56= | |
| XM_011530331.1:c.549C>T | XP_011528633.1:p.Leu183= | |
| XR_938173.1:n.592-13134G>A | ||
| XR_938174.1:n.487-13134G>A | ||
| NM_000343.4:c.549C>T MANE Select | NP_000334.1:p.Leu183= | |
| NM_001256314.2:c.168C>T | NP_001243243.1:p.Leu56= |