Linked Data
dbSNP Id:
rs782305265
ExAC:
X:152959461 C / G
gnomAD v2:
X-152959461-C-G
gnomAD v4:
X-153694006-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694006C>G , CM000685.2:g.153694006C>G | GRCh38 |
| NC_000023.10:g.152959461C>G , CM000685.1:g.152959461C>G | GRCh37 |
| NC_000023.9:g.152612655C>G | NCBI36 |
| NG_012016.1:g.10710C>G | |
| NG_012016.2:g.10710C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1243C>G MANE Select | ENSP00000253122.5:p.Leu415Val | |
| ENST00000253122.9:c.1243C>G | ENSP00000253122.5:p.Leu415Val | |
| ENST00000413787.1:c.258-198C>G | ENSP00000400463.1:n.258-198C>G | |
| ENST00000430077.6:c.898C>G | ENSP00000403041.2:p.Leu300Val | |
| ENST00000442457.1:c.297C>G | ||
| ENST00000457723.1:c.227C>G | ENSP00000394742.1:p.Ser76Cys | |
| ENST00000485324.1:n.1276C>G | ||
| NM_001142805.1:c.1213C>G | NP_001136277.1:p.Leu405Val | |
| NM_001142806.1:c.898C>G | NP_001136278.1:p.Leu300Val | |
| NM_005629.3:c.1243C>G | NP_005620.1:p.Leu415Val | |
| NM_005629.4:c.1243C>G MANE Select | NP_005620.1:p.Leu415Val | |
| NM_001142805.2:c.1213C>G | NP_001136277.1:p.Leu405Val |