Linked Data
ClinVar Variation Id:
864122
ClinVar RCV Id:
RCV001071233
dbSNP Id:
rs781095752
ExAC:
X:15342798 T / C
gnomAD v2:
X-15342798-T-C
gnomAD v4:
X-15324676-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15324676T>C , CM000685.2:g.15324676T>C | GRCh38 |
| NC_000023.10:g.15342798T>C , CM000685.1:g.15342798T>C | GRCh37 |
| NC_000023.9:g.15252719T>C | NCBI36 |
| NG_009786.1:g.15863A>G , LRG_160:g.15863A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.1177A>G MANE Select | ENSP00000369820.3:p.Arg393Gly | |
| ENST00000637296.1:c.232A>G | ENSP00000490545.1:p.Arg78Gly | |
| ENST00000637626.1:c.*658A>G | ENSP00000489928.1:n.*658A>G | |
| ENST00000638131.1:c.*438A>G | ENSP00000490483.1:n.*438A>G | |
| ENST00000333590.5:c.1177A>G | ENSP00000369820.3:p.Arg393Gly | |
| ENST00000463173.1:n.449A>G | ||
| ENST00000475746.1:c.81+344A>G | ENSP00000488970.1:n.81+344A>G | |
| ENST00000482148.6:c.670A>G | ENSP00000489528.1:p.Arg224Gly | |
| ENST00000542278.6:c.1177A>G | ENSP00000442653.2:p.Arg393Gly | |
| ENST00000634582.1:c.475A>G | ENSP00000489540.1:p.Arg159Gly | |
| ENST00000634640.1:c.232A>G | ENSP00000489083.1:p.Arg78Gly | |
| ENST00000635045.1:n.1410A>G | ||
| ENST00000635598.1:c.*446A>G | ENSP00000489207.1:n.*446A>G | |
| ENST00000635631.1:n.518A>G | ||
| NM_002641.3:c.1177A>G , LRG_160t1:c.1177A>G | NP_002632.1:p.Arg393Gly | |
| NM_020473.3:c.475A>G | NP_065206.3:p.Arg159Gly | |
| NR_033835.1:n.919A>G | ||
| NR_033836.1:n.635A>G | ||
| XM_011545539.1:c.484A>G | XP_011543841.1:p.Arg162Gly | |
| XM_011545539.2:c.484A>G | XP_011543841.1:p.Arg162Gly | |
| NM_002641.4:c.1177A>G MANE Select | NP_002632.1:p.Arg393Gly |