Linked Data
dbSNP Id:
rs374345199
gnomAD v2:
19-18710527-C-A
gnomAD v3:
19-18599717-C-A
gnomAD v4:
19-18599717-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18599717C>A , CM000681.2:g.18599717C>A | GRCh38 |
| NC_000019.9:g.18710527C>A , CM000681.1:g.18710527C>A | GRCh37 |
| NC_000019.8:g.18571527C>A | NCBI36 |
| NG_013370.1:g.12134G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.245G>T | ENSP00000506849.1:p.Arg82Leu | |
| ENST00000392386.8:c.245G>T MANE Select | ENSP00000376188.2:p.Arg82Leu | |
| ENST00000392386.7:c.245G>T | ENSP00000376188.2:p.Arg82Leu | |
| ENST00000593286.1:n.497G>T | ||
| NM_004750.4:c.245G>T | NP_004741.1:p.Arg82Leu | |
| XM_011528422.1:c.179G>T | XP_011526724.1:p.Arg60Leu | |
| XM_011528423.1:c.245G>T | XP_011526725.1:p.Arg82Leu | |
| XM_011528424.1:c.179G>T | XP_011526726.1:p.Arg60Leu | |
| XM_011528422.2:c.179G>T | XP_011526724.1:p.Arg60Leu | |
| XM_011528423.2:c.245G>T | XP_011526725.1:p.Arg82Leu | |
| XM_011528424.3:c.179G>T | XP_011526726.1:p.Arg60Leu | |
| NM_004750.5:c.245G>T MANE Select | NP_004741.1:p.Arg82Leu |