Linked Data
ClinVar Variation Id:
507
dbSNP Id:
rs77173848
gnomAD v2:
8-41655164-A-G
gnomAD v3:
8-41797646-A-G
gnomAD v4:
8-41797646-A-G
MyVariant Identifiers:
chr8:g.41655164A>G (hg19)
chr8:g.41655164_41655183delinsGGGCCCCCGAGGGCCTTATC (hg19)
chr8:g.41797646A>G (hg38)
chr8:g.41797646_41797665delinsGGGCCCCCGAGGGCCTTATC (hg38)
PubMed:
PMID:8640229
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41797646A>G , CM000670.2:g.41797646A>G | GRCh38 |
| NC_000008.10:g.41655164A>G , CM000670.1:g.41655164A>G | GRCh37 |
| NC_000008.9:g.41774321A>G | NCBI36 |
| NG_012820.1:g.104117T>C | |
| NG_012820.2:g.104117T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265709.14:c.127-39509T>C | ENSP00000265709.8:n.127-39509T>C | |
| ENST00000705521.1:c.127-39509T>C | ENSP00000516136.1:n.127-39509T>C | |
| ENST00000265709.13:c.127-39509T>C | ENSP00000265709.8:n.127-39509T>C | |
| ENST00000265709.12:c.127-39509T>C | ENSP00000265709.8:n.127-39509T>C | |
| NM_001142446.1:c.127-39509T>C | NP_001135918.1:n.127-39509T>C | |
| XM_005273476.3:c.127-39509T>C | XP_005273533.1:n.127-39509T>C | |
| XM_011544490.1:c.127-39509T>C | XP_011542792.1:n.127-39509T>C | |
| XM_011544491.1:c.127-39509T>C | XP_011542793.1:n.127-39509T>C | |
| XM_011544493.1:c.127-39509T>C | XP_011542795.1:n.127-39509T>C | |
| XM_011544494.1:c.127-39509T>C | XP_011542796.1:n.127-39509T>C | |
| XM_011544495.1:c.127-39509T>C | XP_011542797.1:n.127-39509T>C | |
| XM_011544496.1:c.127-39509T>C | XP_011542798.1:n.127-39509T>C | |
| XM_011544497.1:c.127-39509T>C | XP_011542799.1:n.127-39509T>C | |
| XM_011544499.1:c.127-39509T>C | XP_011542801.1:n.127-39509T>C | |
| XM_011544500.1:c.127-39509T>C | XP_011542802.1:n.127-39509T>C | |
| XM_011544501.1:c.127-39509T>C | XP_011542803.1:n.127-39509T>C | |
| XM_011544502.1:c.127-39509T>C | XP_011542804.1:n.127-39509T>C | |
| XM_011544503.1:c.127-39509T>C | XP_011542805.1:n.127-39509T>C | |
| XM_011544504.1:c.127-39509T>C | XP_011542806.1:n.127-39509T>C | |
| XM_011544505.1:c.127-39509T>C | XP_011542807.1:n.127-39509T>C | |
| XM_011544506.1:c.127-39509T>C | XP_011542808.1:n.127-39509T>C | |
| XR_949389.1:n.146-39509T>C | ||
| XM_005273476.4:c.127-39509T>C | XP_005273533.1:n.127-39509T>C | |
| XM_011544490.3:c.127-39509T>C | XP_011542792.1:n.127-39509T>C | |
| XM_011544491.3:c.127-39509T>C | XP_011542793.1:n.127-39509T>C | |
| XM_011544494.3:c.127-39509T>C | XP_011542796.1:n.127-39509T>C | |
| XM_011544495.3:c.127-39509T>C | XP_011542797.1:n.127-39509T>C | |
| XM_011544496.3:c.127-39509T>C | XP_011542798.1:n.127-39509T>C | |
| XM_011544500.2:c.127-39509T>C | XP_011542802.1:n.127-39509T>C | |
| XM_011544501.2:c.127-39509T>C | XP_011542803.1:n.127-39509T>C | |
| XM_011544502.2:c.127-39509T>C | XP_011542804.1:n.127-39509T>C | |
| XM_011544503.3:c.127-39509T>C | XP_011542805.1:n.127-39509T>C | |
| XM_011544504.2:c.127-39509T>C | XP_011542806.1:n.127-39509T>C | |
| XM_011544505.2:c.127-39509T>C | XP_011542807.1:n.127-39509T>C | |
| XM_017013319.2:c.127-39509T>C | XP_016868808.1:n.127-39509T>C | |
| XM_017013320.2:c.127-39509T>C | XP_016868809.1:n.127-39509T>C | |
| XM_017013322.1:c.127-39509T>C | XP_016868811.1:n.127-39509T>C | |
| XM_017013324.1:c.127-39509T>C | XP_016868813.1:n.127-39509T>C | |
| XM_017013327.2:c.127-39509T>C | XP_016868816.1:n.127-39509T>C | |
| XM_017013328.2:c.127-39509T>C | XP_016868817.1:n.127-39509T>C | |
| XM_017013329.1:c.127-39509T>C | XP_016868818.1:n.127-39509T>C | |
| NM_001142446.2:c.127-39509T>C | NP_001135918.1:n.127-39509T>C |