Linked Data
dbSNP Id:
rs181086310
ExAC:
X:53407676 T / C
gnomAD v2:
X-53407676-T-C
gnomAD v3:
X-53380755-T-C
gnomAD v4:
X-53380755-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53380755T>C , CM000685.2:g.53380755T>C | GRCh38 |
| NC_000023.10:g.53407676T>C , CM000685.1:g.53407676T>C | GRCh37 |
| NC_000023.9:g.53424401T>C | NCBI36 |
| NG_006988.2:g.46916A>G , LRG_773:g.46916A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3508-25A>G MANE Select | ENSP00000323421.3:n.3508-25A>G | |
| ENST00000674590.1:c.2740-25A>G | ENSP00000502626.1:n.2740-25A>G | |
| ENST00000675504.1:c.3442-25A>G | ENSP00000502524.1:n.3442-25A>G | |
| ENST00000322213.8:c.3508-25A>G | ENSP00000323421.3:n.3508-25A>G | |
| ENST00000375340.10:c.3442-25A>G | ENSP00000364489.7:n.3442-25A>G | |
| ENST00000470241.2:c.728-25A>G | ||
| NM_001281463.1:c.3442-25A>G , LRG_773t1:c.3442-25A>G | NP_001268392.1:n.3442-25A>G | |
| NM_006306.3:c.3508-25A>G , LRG_773t2:c.3508-25A>G | NP_006297.2:n.3508-25A>G | |
| NM_006306.4:c.3508-25A>G MANE Select | NP_006297.2:n.3508-25A>G |