Linked Data
ClinVar Variation Id:
368655
dbSNP Id:
rs763223675
ExAC:
X:74282158 C / G
gnomAD v2:
X-74282158-C-G
gnomAD v3:
X-75062323-C-G
gnomAD v4:
X-75062323-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.75062323C>G , CM000685.2:g.75062323C>G | GRCh38 |
| NC_000023.10:g.74282158C>G , CM000685.1:g.74282158C>G | GRCh37 |
| NC_000023.9:g.74198883C>G | NCBI36 |
| NG_007980.1:g.98975G>C | |
| NG_007980.3:g.98961G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253577.9:c.1938+5G>C | ENSP00000253577.3:n.1938+5G>C | |
| ENST00000373394.8:c.1935+5G>C MANE Select | ENSP00000362492.3:n.1935+5G>C | |
| ENST00000620875.5:c.1818+5G>C | ENSP00000479985.1:n.1818+5G>C | |
| ENST00000644766.1:c.1938+5G>C | ENSP00000493713.1:n.1938+5G>C | |
| ENST00000645829.3:c.1950+5G>C | ENSP00000496526.2:n.1950+5G>C | |
| ENST00000663420.1:n.1855+5G>C | ||
| ENST00000666534.1:n.1825+5G>C | ||
| ENST00000669573.1:c.1758+5G>C | ENSP00000499543.1:n.1758+5G>C | |
| ENST00000253577.7:c.1938+5G>C | ENSP00000253577.3:n.1938+5G>C | |
| ENST00000339447.8:c.1815+5G>C | ENSP00000343849.4:n.1815+5G>C | |
| ENST00000373394.7:c.1935+5G>C | ENSP00000362492.3:n.1935+5G>C | |
| ENST00000490858.1:n.300+5G>C | ||
| ENST00000529949.5:c.1857+5G>C | ENSP00000436586.1:n.1857+5G>C | |
| ENST00000620875.4:c.1818+5G>C | ENSP00000479985.1:n.1818+5G>C | |
| NM_001271696.1:c.1935+5G>C | NP_001258625.1:n.1935+5G>C | |
| NM_001271697.1:c.1815+5G>C | NP_001258626.1:n.1815+5G>C | |
| NM_001271698.1:c.1857+5G>C | NP_001258627.1:n.1857+5G>C | |
| NM_001271699.1:c.1818+5G>C | NP_001258628.1:n.1818+5G>C | |
| NM_004299.4:c.1938+5G>C | NP_004290.2:n.1938+5G>C | |
| NM_001271696.2:c.1935+5G>C | NP_001258625.1:n.1935+5G>C | |
| NM_001271697.2:c.1815+5G>C | NP_001258626.1:n.1815+5G>C | |
| NM_001271698.2:c.1857+5G>C | NP_001258627.1:n.1857+5G>C | |
| NM_001271699.2:c.1818+5G>C | NP_001258628.1:n.1818+5G>C | |
| NM_004299.6:c.1938+5G>C | NP_004290.2:n.1938+5G>C | |
| NM_001271696.3:c.1935+5G>C MANE Select | NP_001258625.1:n.1935+5G>C | |
| NM_001271697.3:c.1815+5G>C | NP_001258626.1:n.1815+5G>C | |
| NM_001271698.3:c.1857+5G>C | NP_001258627.1:n.1857+5G>C | |
| NM_001271699.3:c.1818+5G>C | NP_001258628.1:n.1818+5G>C |