Linked Data
dbSNP Id:
rs782308470
ExAC:
X:53409124 C / G
gnomAD v2:
X-53409124-C-G
gnomAD v3:
X-53382203-C-G
gnomAD v4:
X-53382203-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53382203C>G , CM000685.2:g.53382203C>G | GRCh38 |
| NC_000023.10:g.53409124C>G , CM000685.1:g.53409124C>G | GRCh37 |
| NC_000023.9:g.53425849C>G | NCBI36 |
| NG_006988.2:g.45468G>C , LRG_773:g.45468G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3437+29G>C MANE Select | ENSP00000323421.3:n.3437+29G>C | |
| ENST00000674590.1:c.2669+29G>C | ENSP00000502626.1:n.2669+29G>C | |
| ENST00000675504.1:c.3371+29G>C | ENSP00000502524.1:n.3371+29G>C | |
| ENST00000322213.8:c.3437+29G>C | ENSP00000323421.3:n.3437+29G>C | |
| ENST00000375340.10:c.3371+29G>C | ENSP00000364489.7:n.3371+29G>C | |
| ENST00000469129.1:n.322G>C | ||
| ENST00000470241.2:c.727+29G>C | ||
| NM_001281463.1:c.3371+29G>C , LRG_773t1:c.3371+29G>C | NP_001268392.1:n.3371+29G>C | |
| NM_006306.3:c.3437+29G>C , LRG_773t2:c.3437+29G>C | NP_006297.2:n.3437+29G>C | |
| NM_006306.4:c.3437+29G>C MANE Select | NP_006297.2:n.3437+29G>C |