Linked Data
ClinVar Variation Id:
243014
ClinVar RCV Id:
RCV000235004
dbSNP Id:
rs764786986
gnomAD v2:
20-5081567-C-A
gnomAD v3:
20-5100921-C-A
gnomAD v4:
20-5100921-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5100921C>A , CM000682.2:g.5100921C>A | GRCh38 |
| NC_000020.10:g.5081567C>A , CM000682.1:g.5081567C>A | GRCh37 |
| NC_000020.9:g.5029567C>A | NCBI36 |
| NG_053057.1:g.17167G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342308.10:c.422G>T | ENSP00000341364.5:p.Arg141Leu | |
| ENST00000202834.11:c.233G>T | ENSP00000202834.7:p.Arg78Leu | |
| ENST00000342308.9:c.422G>T | ENSP00000341364.5:p.Arg141Leu | |
| ENST00000379277.6:c.233G>T | ENSP00000368579.2:p.Arg78Leu | |
| ENST00000379279.6:c.233G>T | ENSP00000368581.2:p.Arg78Leu | |
| ENST00000379283.6:c.233G>T | ENSP00000368585.2:p.Arg78Leu | |
| ENST00000379286.6:c.233G>T | ENSP00000368588.2:p.Arg78Leu | |
| ENST00000379299.6:c.233G>T | ENSP00000368601.2:p.Arg78Leu | |
| ENST00000492419.1:n.649G>T | ||
| ENST00000612323.4:c.222+5267G>T | ENSP00000478641.1:n.222+5267G>T | |
| ENST00000615008.4:c.222+5267G>T | ENSP00000478112.1:n.222+5267G>T | |
| NM_001009923.1:c.422G>T | NP_001009923.1:p.Arg141Leu | |
| NM_001009924.1:c.233G>T | NP_001009924.1:p.Arg78Leu | |
| NM_001009925.1:c.233G>T | NP_001009925.1:p.Arg78Leu | |
| NM_014145.4:c.233G>T | NP_054864.3:p.Arg78Leu | |
| XM_005260713.2:c.233G>T | XP_005260770.1:p.Arg78Leu | |
| XM_006723561.2:c.233G>T | XP_006723624.1:p.Arg78Leu | |
| XM_011529227.1:c.233G>T | XP_011527529.1:p.Arg78Leu | |
| XM_011529228.1:c.233G>T | XP_011527530.1:p.Arg78Leu | |
| XM_011529229.1:c.233G>T | XP_011527531.1:p.Arg78Leu | |
| NM_001330984.1:c.233G>T | NP_001317913.1:p.Arg78Leu | |
| NM_001330985.1:c.233G>T | NP_001317914.1:p.Arg78Leu | |
| NM_001330986.1:c.233G>T | NP_001317915.1:p.Arg78Leu | |
| NM_001330987.1:c.222+5267G>T | NP_001317916.1:n.222+5267G>T | |
| XM_017027836.2:c.233G>T | XP_016883325.1:p.Arg78Leu | |
| XM_024451879.1:c.411+5267G>T | XP_024307647.1:n.411+5267G>T | |
| XR_002958476.1:n.473+5267G>T | ||
| XR_002958477.1:n.473+5267G>T | ||
| XR_002958478.1:n.305+5267G>T | ||
| XR_002958479.1:n.364+5267G>T | ||
| XR_002958480.1:n.364+5267G>T | ||
| XR_002958481.1:n.584+5267G>T | ||
| XR_002958482.1:n.558+5267G>T | ||
| XR_002958483.1:n.594+5267G>T | ||
| XR_002958484.1:n.506+5267G>T | ||
| XR_002958485.1:n.347+5267G>T | ||
| NM_001009923.2:c.422G>T | NP_001009923.1:p.Arg141Leu | |
| NM_001009924.2:c.233G>T | NP_001009924.1:p.Arg78Leu | |
| NM_001009925.2:c.233G>T MANE Select | NP_001009925.1:p.Arg78Leu | |
| NM_001330984.2:c.233G>T | NP_001317913.1:p.Arg78Leu | |
| NM_001330985.2:c.233G>T | NP_001317914.1:p.Arg78Leu | |
| NM_001330986.2:c.233G>T | NP_001317915.1:p.Arg78Leu | |
| NM_001330987.2:c.222+5267G>T | NP_001317916.1:n.222+5267G>T | |
| NM_014145.5:c.233G>T | NP_054864.3:p.Arg78Leu |