Linked Data
ClinVar Variation Id:
197701
dbSNP Id:
rs794727708
gnomAD v3:
1-155239639-A-C
gnomAD v4:
1-155239639-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155239639A>C , CM000663.2:g.155239639A>C | GRCh38 |
| NC_000001.10:g.155209430A>C , CM000663.1:g.155209430A>C | GRCh37 |
| NC_000001.9:g.153476054A>C | NCBI36 |
| NG_009783.1:g.10059T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.431T>G MANE Select | ENSP00000357357.3:p.Leu144Arg | |
| ENST00000327247.9:c.431T>G | ENSP00000314508.5:p.Leu144Arg | |
| ENST00000368373.7:c.431T>G | ENSP00000357357.3:p.Leu144Arg | |
| ENST00000427500.7:c.307+247T>G | ENSP00000402577.2:n.307+247T>G | |
| ENST00000428024.3:c.170T>G | ENSP00000397986.2:p.Leu57Arg | |
| ENST00000467918.5:n.621T>G | ||
| ENST00000473570.5:n.752T>G | ||
| ENST00000484489.5:n.339+334T>G | ||
| ENST00000493842.5:n.769T>G | ||
| ENST00000497670.5:n.77+247T>G | ||
| NM_000157.3:c.431T>G | NP_000148.2:p.Leu144Arg | |
| NM_001005741.2:c.431T>G | NP_001005741.1:p.Leu144Arg | |
| NM_001005742.2:c.431T>G | NP_001005742.1:p.Leu144Arg | |
| NM_001171811.1:c.170T>G | NP_001165282.1:p.Leu57Arg | |
| NM_001171812.1:c.307+247T>G | NP_001165283.1:n.307+247T>G | |
| XM_006711270.1:c.431T>G | XP_006711333.1:p.Leu144Arg | |
| XM_011509407.1:c.431T>G | XP_011507709.1:p.Leu144Arg | |
| NM_000157.4:c.431T>G MANE Select | NP_000148.2:p.Leu144Arg | |
| NM_001005741.3:c.431T>G | NP_001005741.1:p.Leu144Arg | |
| NM_001005742.3:c.431T>G | NP_001005742.1:p.Leu144Arg | |
| NM_001171811.2:c.170T>G | NP_001165282.1:p.Leu57Arg | |
| NM_001171812.2:c.307+247T>G | NP_001165283.1:n.307+247T>G |