Linked Data
ClinVar Variation Id:
286452
dbSNP Id:
rs782299893
ExAC:
X:153609402 C / G
gnomAD v2:
X-153609402-C-G
gnomAD v4:
X-154381042-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154381042C>G , CM000685.2:g.154381042C>G | GRCh38 |
| NC_000023.10:g.153609402C>G , CM000685.1:g.153609402C>G | GRCh37 |
| NC_000023.9:g.153262596C>G | NCBI36 |
| NG_008677.1:g.11607C>G , LRG_745:g.11607C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.572+38C>G | ENSP00000507245.1:n.572+38C>G | |
| ENST00000682478.1:n.762+38C>G | ||
| ENST00000683576.1:n.800C>G | ||
| ENST00000683627.1:c.610C>G | ENSP00000507533.1:p.Arg204Gly | |
| ENST00000684082.1:c.567C>G | ENSP00000508266.1:n.567C>G | |
| ENST00000684633.1:n.582C>G | ||
| ENST00000684678.1:c.568+38C>G | ENSP00000507059.1:n.568+38C>G | |
| ENST00000369842.9:c.610C>G MANE Select | ENSP00000358857.4:p.Arg204Gly | |
| ENST00000369835.3:c.505C>G | ENSP00000358850.3:p.Arg169Gly | |
| ENST00000369842.8:c.610C>G | ENSP00000358857.4:p.Arg204Gly | |
| ENST00000428228.5:c.*515C>G | ENSP00000401081.1:n.*515C>G | |
| ENST00000471965.1:n.399C>G | ||
| ENST00000486738.5:n.1047C>G | ||
| ENST00000492448.1:n.593C>G | ||
| NM_000117.2:c.610C>G , LRG_745t1:c.610C>G | NP_000108.1:p.Arg204Gly | |
| XM_024452349.1:c.616C>G | XP_024308117.1:p.Arg206Gly | |
| NM_000117.3:c.610C>G MANE Select | NP_000108.1:p.Arg204Gly |