Linked Data
dbSNP Id:
rs782734343
ExAC:
X:152858133 C / A
gnomAD v2:
X-152858133-C-A
gnomAD v4:
X-153592675-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153592675C>A , CM000685.2:g.153592675C>A | GRCh38 |
| NC_000023.10:g.152858133C>A , CM000685.1:g.152858133C>A | GRCh37 |
| NC_000023.9:g.152511327C>A | NCBI36 |
| NG_008393.2:g.11503G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576892.8:c.488G>T MANE Select | ENSP00000461135.1:p.Arg163Leu | |
| ENST00000429336.5:c.193+1872G>T | ||
| ENST00000440428.5:c.488G>T | ENSP00000402949.2:p.Arg163Leu | |
| ENST00000482182.3:c.362G>T | ENSP00000466345.1:p.Arg121Leu | |
| ENST00000576892.7:c.488G>T | ENSP00000461135.1:p.Arg163Leu | |
| ENST00000614850.1:c.277+3329G>T | ||
| ENST00000614851.4:c.309G>T | ||
| ENST00000620088.4:c.*364G>T | ENSP00000484108.1:n.*364G>T | |
| ENST00000621629.4:c.*364G>T | ENSP00000478747.1:n.*364G>T | |
| ENST00000621817.1:c.*653G>T | ENSP00000481634.1:n.*653G>T | |
| NM_001130997.2:c.488G>T | NP_001124469.1:p.Arg163Leu | |
| NM_152274.4:c.488G>T | NP_689487.2:p.Arg163Leu | |
| XM_005277920.3:c.458G>T | XP_005277977.1:p.Arg153Leu | |
| XM_005277921.3:c.458G>T | XP_005277978.1:p.Arg153Leu | |
| XM_011531213.1:c.362G>T | XP_011529515.1:p.Arg121Leu | |
| XM_011531214.1:c.362G>T | XP_011529516.1:p.Arg121Leu | |
| XM_011531215.1:c.362G>T | XP_011529517.1:p.Arg121Leu | |
| XM_005277920.4:c.458G>T | XP_005277977.1:p.Arg153Leu | |
| XM_005277921.4:c.458G>T | XP_005277978.1:p.Arg153Leu | |
| XM_011531214.2:c.362G>T | XP_011529516.1:p.Arg121Leu | |
| XM_011531215.2:c.362G>T | XP_011529517.1:p.Arg121Leu | |
| XR_002958810.1:n.2393G>T | ||
| NM_152274.5:c.488G>T MANE Select | NP_689487.2:p.Arg163Leu | |
| NM_001130997.3:c.488G>T | NP_001124469.1:p.Arg163Leu |