Linked Data
ClinVar Variation Id:
155852
dbSNP Id:
rs373979810
gnomAD v2:
22-19906521-C-A
gnomAD v3:
22-19918998-C-A
gnomAD v4:
22-19918998-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19918998C>A , CM000684.2:g.19918998C>A | GRCh38 |
| NC_000022.10:g.19906521C>A , CM000684.1:g.19906521C>A | GRCh37 |
| NC_000022.9:g.18286521C>A | NCBI36 |
| NG_011835.1:g.27839G>T , LRG_417:g.27839G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.236G>T MANE Select | ENSP00000383365.1:p.Arg79Leu | |
| ENST00000334363.14:c.236G>T | ENSP00000334451.9:p.Arg79Leu | |
| ENST00000400518.5:c.146G>T | ENSP00000383362.1:p.Arg49Leu | |
| ENST00000400519.6:c.233G>T | ENSP00000383363.1:p.Arg78Leu | |
| ENST00000400521.6:c.236G>T | ENSP00000383365.1:p.Arg79Leu | |
| ENST00000400525.6:c.167G>T | ENSP00000383369.3:p.Arg56Leu | |
| ENST00000474308.5:c.179G>T | ENSP00000485665.1:p.Arg60Leu | |
| ENST00000491939.6:c.140G>T | ENSP00000485543.1:p.Arg47Leu | |
| ENST00000496729.2:n.241G>T | ||
| ENST00000542719.6:c.-53G>T | ENSP00000485128.2:n.-53G>T | |
| NM_001282512.1:c.236G>T | NP_001269441.1:p.Arg79Leu | |
| NM_006440.4:c.236G>T | NP_006431.2:p.Arg79Leu | |
| NM_001282512.2:c.236G>T | NP_001269441.1:p.Arg79Leu | |
| NM_001352300.1:c.233G>T | NP_001339229.1:p.Arg78Leu | |
| NM_001352301.1:c.146G>T | NP_001339230.1:p.Arg49Leu | |
| NM_001352302.1:c.-53G>T | NP_001339231.1:n.-53G>T | |
| NM_001352303.1:c.140G>T | NP_001339232.1:p.Arg47Leu | |
| NR_147957.1:n.368G>T | ||
| NM_006440.5:c.236G>T MANE Select | NP_006431.2:p.Arg79Leu | |
| NM_001282512.3:c.236G>T | NP_001269441.1:p.Arg79Leu | |
| NM_001352300.2:c.233G>T | NP_001339229.1:p.Arg78Leu | |
| NR_147957.2:n.194G>T | ||
| NM_001352301.2:c.146G>T | NP_001339230.1:p.Arg49Leu | |
| NM_001352302.2:c.-53G>T | NP_001339231.1:n.-53G>T | |
| NM_001352303.2:c.140G>T | NP_001339232.1:p.Arg47Leu |