Linked Data
ClinVar Variation Id:
2691473
ClinVar RCV Id:
RCV003489713
dbSNP Id:
rs782347891
ExAC:
X:48650720 A / G
gnomAD v2:
X-48650720-A-G
gnomAD v3:
X-48792313-A-G
gnomAD v4:
X-48792313-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48792313A>G , CM000685.2:g.48792313A>G | GRCh38 |
| NC_000023.10:g.48650720A>G , CM000685.1:g.48650720A>G | GRCh37 |
| NC_000023.9:g.48535664A>G | NCBI36 |
| NG_008846.2:g.10740A>G , LRG_559:g.10740A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651144.2:c.350-10A>G | ENSP00000498550.1:n.350-10A>G | |
| ENST00000696450.1:c.599-10A>G | ENSP00000512637.1:n.599-10A>G | |
| ENST00000696451.1:c.350-10A>G | ENSP00000512638.1:n.350-10A>G | |
| ENST00000696452.1:c.350-10A>G | ENSP00000512639.1:n.350-10A>G | |
| ENST00000376670.9:c.599-10A>G MANE Select | ENSP00000365858.3:n.599-10A>G | |
| ENST00000651144.1:c.350-10A>G | ENSP00000498550.1:n.350-10A>G | |
| ENST00000376665.4:c.599-10A>G | ENSP00000365853.3:n.599-10A>G | |
| ENST00000376670.7:c.599-10A>G | ENSP00000365858.3:n.599-10A>G | |
| NM_002049.3:c.599-10A>G , LRG_559t1:c.599-10A>G | NP_002040.1:n.599-10A>G | |
| XM_011543897.1:c.599-10A>G | XP_011542199.1:n.599-10A>G | |
| XM_011543898.1:c.350-10A>G | XP_011542200.1:n.350-10A>G | |
| XM_011543897.2:c.599-10A>G | XP_011542199.1:n.599-10A>G | |
| XM_011543898.2:c.350-10A>G | XP_011542200.1:n.350-10A>G | |
| XM_024452363.1:c.350-10A>G | XP_024308131.1:n.350-10A>G | |
| NM_002049.4:c.599-10A>G MANE Select | NP_002040.1:n.599-10A>G |