Linked Data
ClinVar Variation Id:
993678
ClinVar RCV Id:
RCV001285464
dbSNP Id:
rs117184692
gnomAD v2:
8-41655260-G-C
gnomAD v3:
8-41797742-G-C
gnomAD v4:
8-41797742-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41797742G>C , CM000670.2:g.41797742G>C | GRCh38 |
| NC_000008.10:g.41655260G>C , CM000670.1:g.41655260G>C | GRCh37 |
| NC_000008.9:g.41774417G>C | NCBI36 |
| NG_012820.1:g.104021C>G | |
| NG_012820.2:g.104021C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265709.14:c.127-39605C>G | ENSP00000265709.8:n.127-39605C>G | |
| ENST00000705521.1:c.127-39605C>G | ENSP00000516136.1:n.127-39605C>G | |
| ENST00000265709.13:c.127-39605C>G | ENSP00000265709.8:n.127-39605C>G | |
| ENST00000265709.12:c.127-39605C>G | ENSP00000265709.8:n.127-39605C>G | |
| NM_001142446.1:c.127-39605C>G | NP_001135918.1:n.127-39605C>G | |
| XM_005273476.3:c.127-39605C>G | XP_005273533.1:n.127-39605C>G | |
| XM_011544490.1:c.127-39605C>G | XP_011542792.1:n.127-39605C>G | |
| XM_011544491.1:c.127-39605C>G | XP_011542793.1:n.127-39605C>G | |
| XM_011544493.1:c.127-39605C>G | XP_011542795.1:n.127-39605C>G | |
| XM_011544494.1:c.127-39605C>G | XP_011542796.1:n.127-39605C>G | |
| XM_011544495.1:c.127-39605C>G | XP_011542797.1:n.127-39605C>G | |
| XM_011544496.1:c.127-39605C>G | XP_011542798.1:n.127-39605C>G | |
| XM_011544497.1:c.127-39605C>G | XP_011542799.1:n.127-39605C>G | |
| XM_011544499.1:c.127-39605C>G | XP_011542801.1:n.127-39605C>G | |
| XM_011544500.1:c.127-39605C>G | XP_011542802.1:n.127-39605C>G | |
| XM_011544501.1:c.127-39605C>G | XP_011542803.1:n.127-39605C>G | |
| XM_011544502.1:c.127-39605C>G | XP_011542804.1:n.127-39605C>G | |
| XM_011544503.1:c.127-39605C>G | XP_011542805.1:n.127-39605C>G | |
| XM_011544504.1:c.127-39605C>G | XP_011542806.1:n.127-39605C>G | |
| XM_011544505.1:c.127-39605C>G | XP_011542807.1:n.127-39605C>G | |
| XM_011544506.1:c.127-39605C>G | XP_011542808.1:n.127-39605C>G | |
| XR_949389.1:n.146-39605C>G | ||
| XM_005273476.4:c.127-39605C>G | XP_005273533.1:n.127-39605C>G | |
| XM_011544490.3:c.127-39605C>G | XP_011542792.1:n.127-39605C>G | |
| XM_011544491.3:c.127-39605C>G | XP_011542793.1:n.127-39605C>G | |
| XM_011544494.3:c.127-39605C>G | XP_011542796.1:n.127-39605C>G | |
| XM_011544495.3:c.127-39605C>G | XP_011542797.1:n.127-39605C>G | |
| XM_011544496.3:c.127-39605C>G | XP_011542798.1:n.127-39605C>G | |
| XM_011544500.2:c.127-39605C>G | XP_011542802.1:n.127-39605C>G | |
| XM_011544501.2:c.127-39605C>G | XP_011542803.1:n.127-39605C>G | |
| XM_011544502.2:c.127-39605C>G | XP_011542804.1:n.127-39605C>G | |
| XM_011544503.3:c.127-39605C>G | XP_011542805.1:n.127-39605C>G | |
| XM_011544504.2:c.127-39605C>G | XP_011542806.1:n.127-39605C>G | |
| XM_011544505.2:c.127-39605C>G | XP_011542807.1:n.127-39605C>G | |
| XM_017013319.2:c.127-39605C>G | XP_016868808.1:n.127-39605C>G | |
| XM_017013320.2:c.127-39605C>G | XP_016868809.1:n.127-39605C>G | |
| XM_017013322.1:c.127-39605C>G | XP_016868811.1:n.127-39605C>G | |
| XM_017013324.1:c.127-39605C>G | XP_016868813.1:n.127-39605C>G | |
| XM_017013327.2:c.127-39605C>G | XP_016868816.1:n.127-39605C>G | |
| XM_017013328.2:c.127-39605C>G | XP_016868817.1:n.127-39605C>G | |
| XM_017013329.1:c.127-39605C>G | XP_016868818.1:n.127-39605C>G | |
| NM_001142446.2:c.127-39605C>G | NP_001135918.1:n.127-39605C>G |