Linked Data
dbSNP Id:
rs755637414
gnomAD v2:
20-948670-C-A
gnomAD v3:
20-968027-C-A
gnomAD v4:
20-968027-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.968027C>A , CM000682.2:g.968027C>A | GRCh38 |
| NC_000020.10:g.948670C>A , CM000682.1:g.948670C>A | GRCh37 |
| NC_000020.9:g.896670C>A | NCBI36 |
| NG_013043.1:g.39238G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217260.9:c.191G>T MANE Select | ENSP00000217260.4:p.Arg64Leu | |
| ENST00000217260.8:c.191G>T | ENSP00000217260.4:p.Arg64Leu | |
| ENST00000400634.2:c.191G>T | ENSP00000383475.2:p.Arg64Leu | |
| NM_001029871.3:c.191G>T | NP_001025042.2:p.Arg64Leu | |
| NM_001040007.2:c.191G>T | NP_001035096.1:p.Arg64Leu | |
| XM_011529232.1:c.239G>T | XP_011527534.1:p.Arg80Leu | |
| XM_011529233.1:c.239G>T | XP_011527535.1:p.Arg80Leu | |
| XR_937068.1:n.311G>T | ||
| XR_937069.1:n.306G>T | ||
| XM_017027839.1:c.191G>T | XP_016883328.1:p.Arg64Leu | |
| NM_001029871.4:c.191G>T MANE Select | NP_001025042.2:p.Arg64Leu | |
| NM_001040007.3:c.191G>T | NP_001035096.1:p.Arg64Leu |