Linked Data
ClinVar Variation Id:
2414373
ClinVar RCV Id:
RCV003106706
dbSNP Id:
rs1026524656
gnomAD v2:
X-153641527-C-G
gnomAD v3:
X-154413190-C-G
gnomAD v4:
X-154413190-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154413190C>G , CM000685.2:g.154413190C>G | GRCh38 |
| NC_000023.10:g.153641527C>G , CM000685.1:g.153641527C>G | GRCh37 |
| NC_000023.9:g.153294721C>G | NCBI36 |
| NG_009634.1:g.6651C>G | |
| NG_012884.2:g.3899G>C | |
| NG_009634.2:g.6656C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698234.1:n.667-17C>G | ||
| ENST00000698235.1:n.226-17C>G | ||
| ENST00000698317.1:n.1176C>G | ||
| ENST00000698318.1:n.1037C>G | ||
| ENST00000470127.2:n.271C>G | ||
| ENST00000475699.6:c.293-17C>G | ENSP00000419854.3:n.293-17C>G | |
| ENST00000476800.2:n.1179C>G | ||
| ENST00000483674.3:n.130-17C>G | ||
| ENST00000601016.6:c.239-17C>G MANE Select | ENSP00000469981.1:n.239-17C>G | |
| ENST00000612012.5:c.239-17C>G | ENSP00000482070.2:n.239-17C>G | |
| ENST00000612460.5:c.239-17C>G | ENSP00000481037.1:n.239-17C>G | |
| ENST00000614595.2:n.1572C>G | ||
| ENST00000615658.5:n.552-17C>G | ||
| ENST00000616020.5:c.293-17C>G | ENSP00000483636.2:n.293-17C>G | |
| ENST00000617701.5:c.239-17C>G | ENSP00000481645.1:n.239-17C>G | |
| ENST00000621647.2:n.292-17C>G | ||
| ENST00000652354.1:c.-38-17C>G | ENSP00000498734.1:n.-38-17C>G | |
| ENST00000652358.1:c.-56-17C>G | ENSP00000498464.1:n.-56-17C>G | |
| ENST00000652390.1:c.158-17C>G | ENSP00000498858.1:n.158-17C>G | |
| ENST00000652476.1:n.400-17C>G | ||
| ENST00000652682.1:c.239-17C>G | ENSP00000498288.1:n.239-17C>G | |
| ENST00000652685.1:n.291-17C>G | ||
| ENST00000369776.8:c.164-17C>G | ENSP00000358791.4:n.164-17C>G | |
| ENST00000426231.5:c.55-17C>G | ||
| ENST00000439735.2:c.239-17C>G | ENSP00000398193.1:n.239-17C>G | |
| ENST00000475699.5:c.239-17C>G | ENSP00000419854.2:n.239-17C>G | |
| ENST00000476679.5:n.152-17C>G | ||
| ENST00000476800.1:n.100C>G | ||
| ENST00000479875.1:n.268-17C>G | ||
| ENST00000483780.5:n.13-17C>G | ||
| ENST00000601016.5:c.239-17C>G | ENSP00000469981.1:n.239-17C>G | |
| ENST00000612012.4:c.293-17C>G | ENSP00000482070.1:n.293-17C>G | |
| ENST00000612460.4:c.239-17C>G | ENSP00000481037.1:n.239-17C>G | |
| ENST00000613002.4:c.239-17C>G | ENSP00000478154.1:n.239-17C>G | |
| ENST00000613634.4:n.559-17C>G | ||
| ENST00000615658.4:n.565-17C>G | ||
| ENST00000615986.4:c.239-17C>G | ENSP00000480133.1:n.239-17C>G | |
| ENST00000616020.4:c.293-17C>G | ENSP00000483636.1:n.293-17C>G | |
| ENST00000617701.4:c.239-17C>G | ENSP00000481645.1:n.239-17C>G | |
| ENST00000620808.4:c.239-17C>G | ENSP00000479311.1:n.239-17C>G | |
| ENST00000621647.1:n.524-17C>G | ||
| NM_000116.4:c.239-17C>G | NP_000107.1:n.239-17C>G | |
| NM_001303465.1:c.293-17C>G | NP_001290394.1:n.293-17C>G | |
| NM_181311.3:c.239-17C>G | NP_851828.1:n.239-17C>G | |
| NM_181312.3:c.239-17C>G | NP_851829.1:n.239-17C>G | |
| NM_181313.3:c.239-17C>G | NP_851830.1:n.239-17C>G | |
| NR_024048.2:n.565-17C>G | ||
| XM_006724836.1:c.293-17C>G | XP_006724899.1:n.293-17C>G | |
| XM_006724837.1:c.293-17C>G | XP_006724900.1:n.293-17C>G | |
| XM_006724839.1:c.293-17C>G | XP_006724902.1:n.293-17C>G | |
| XM_006724841.2:c.-56-17C>G | XP_006724904.1:n.-56-17C>G | |
| XM_006724842.2:c.-56-17C>G | XP_006724905.1:n.-56-17C>G | |
| XM_011531189.1:c.293-17C>G | XP_011529491.1:n.293-17C>G | |
| XM_011531190.1:c.-56-17C>G | XP_011529492.1:n.-56-17C>G | |
| XM_011531191.1:c.-38-17C>G | XP_011529493.1:n.-38-17C>G | |
| XM_011531192.1:c.-159-17C>G | XP_011529494.1:n.-159-17C>G | |
| XR_938511.1:n.596-17C>G | ||
| XM_006724841.4:c.-56-17C>G | XP_006724904.1:n.-56-17C>G | |
| XM_006724842.4:c.-56-17C>G | XP_006724905.1:n.-56-17C>G | |
| XM_011531191.2:c.-38-17C>G | XP_011529493.1:n.-38-17C>G | |
| XM_017029761.1:c.239-17C>G | XP_016885250.1:n.239-17C>G | |
| XM_017029762.1:c.293-17C>G | XP_016885251.1:n.293-17C>G | |
| XM_017029763.1:c.239-17C>G | XP_016885252.1:n.239-17C>G | |
| XM_017029765.2:c.-56-17C>G | XP_016885254.1:n.-56-17C>G | |
| XM_024452431.1:c.293-17C>G | XP_024308199.1:n.293-17C>G | |
| NM_000116.5:c.239-17C>G MANE Select | NP_000107.1:n.239-17C>G | |
| NM_001303465.2:c.293-17C>G | NP_001290394.1:n.293-17C>G | |
| NM_181311.4:c.239-17C>G | NP_851828.1:n.239-17C>G | |
| NM_181312.4:c.239-17C>G | NP_851829.1:n.239-17C>G | |
| NM_181313.4:c.239-17C>G | NP_851830.1:n.239-17C>G | |
| NR_024048.3:n.544-17C>G |