Linked Data
ClinVar Variation Id:
180562
dbSNP Id:
rs148763371
ExAC:
19:49675297 T / G
gnomAD v2:
19-49675297-T-G
gnomAD v3:
19-49172040-T-G
gnomAD v4:
19-49172040-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49172040T>G , CM000681.2:g.49172040T>G | GRCh38 |
| NC_000019.9:g.49675297T>G , CM000681.1:g.49675297T>G | GRCh37 |
| NC_000019.8:g.54367109T>G | NCBI36 |
| NG_027551.1:g.19282T>G | |
| NG_027551.2:g.19282T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252826.10:c.1082T>G MANE Select | ENSP00000252826.4:p.Leu361Arg | |
| ENST00000252826.9:c.1082T>G | ENSP00000252826.4:p.Leu361Arg | |
| ENST00000427978.6:c.1082T>G | ENSP00000407492.1:p.Leu361Arg | |
| ENST00000595519.5:c.*492T>G | ENSP00000469893.1:n.*492T>G | |
| ENST00000596338.5:n.1117T>G | ||
| ENST00000598502.5:c.*250T>G | ENSP00000470229.1:n.*250T>G | |
| ENST00000598697.5:c.*218+271T>G | ENSP00000468989.1:n.*218+271T>G | |
| ENST00000601347.1:n.396T>G | ||
| NM_001195227.1:c.1082T>G | NP_001182156.1:p.Leu361Arg | |
| NM_017636.3:c.1082T>G | NP_060106.2:p.Leu361Arg | |
| XM_005259017.1:c.-93T>G | XP_005259074.1:n.-93T>G | |
| XM_011527046.1:c.560T>G | XP_011525348.1:p.Leu187Arg | |
| NM_001321281.1:c.737T>G | NP_001308210.1:p.Leu246Arg | |
| NM_001321282.1:c.-472T>G | NP_001308211.1:n.-472T>G | |
| NM_001321283.1:c.560T>G | NP_001308212.1:p.Leu187Arg | |
| NM_001321285.1:c.201+271T>G | NP_001308214.1:n.201+271T>G | |
| XM_024451557.1:c.-1013T>G | XP_024307325.1:n.-1013T>G | |
| NM_017636.4:c.1082T>G MANE Select | NP_060106.2:p.Leu361Arg | |
| NM_001195227.2:c.1082T>G | NP_001182156.1:p.Leu361Arg | |
| NM_001321281.2:c.737T>G | NP_001308210.1:p.Leu246Arg | |
| NM_001321282.2:c.-472T>G | NP_001308211.1:n.-472T>G | |
| NM_001321283.2:c.560T>G | NP_001308212.1:p.Leu187Arg | |
| NM_001321285.2:c.201+271T>G | NP_001308214.1:n.201+271T>G |