Linked Data
ClinVar Variation Id:
389995
ClinVar RCV Id:
RCV000439087
dbSNP Id:
rs1057523610
gnomAD v3:
11-111871493-G-A
gnomAD v4:
11-111871493-G-A
MyVariant Identifiers:
chr11:g.111871493G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111871493G>A , CM000673.2:g.111871493G>A | GRCh38 |
| NC_000011.8:g.111247427G>A | NCBI36 |
| NG_009210.1:g.5089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616540.5:c.-11C>T MANE Select | ENSP00000482437.1:n.-11C>T | |
| ENST00000526587.2:c.88-1123C>T | ||
| ENST00000542429.2:c.604-4C>T | ||
| ENST00000612489.1:c.-11C>T | ENSP00000478246.1:n.-11C>T | |
| ENST00000613181.4:c.-11C>T | ENSP00000479335.1:n.-11C>T | |
| ENST00000614444.4:c.-11C>T | ENSP00000484200.1:n.-11C>T | |
| ENST00000616540.4:c.-11C>T | ENSP00000482437.1:n.-11C>T | |
| ENST00000618252.1:c.-11C>T | ENSP00000482975.1:n.-11C>T | |
| ENST00000619129.4:c.-11C>T | ENSP00000480661.1:n.-11C>T | |
| ENST00000622211.4:c.693-4C>T | ENSP00000482396.1:n.693-4C>T | |
| NM_001077690.1:c.-11C>T | NP_001071158.1:n.-11C>T | |
| NM_024740.2:c.-11C>T MANE Select | NP_079016.2:n.-11C>T | |
| XM_005277723.3:c.-11C>T | XP_005277780.1:n.-11C>T | |
| XM_005277724.3:c.-11C>T | XP_005277781.1:n.-11C>T | |
| XM_006718913.2:c.-11C>T | XP_006718976.1:n.-11C>T | |
| XM_011542990.1:c.-11C>T | XP_011541292.1:n.-11C>T | |
| XM_011542991.1:c.-11C>T | XP_011541293.1:n.-11C>T | |
| XM_011542992.1:c.-11C>T | XP_011541294.1:n.-11C>T | |
| XM_011542995.1:c.-528C>T | XP_011541297.1:n.-528C>T | |
| XR_947863.1:n.89C>T | ||
| XR_947864.1:n.89C>T | ||
| XR_947865.1:n.89C>T | ||
| NM_001352409.1:c.-385C>T | NP_001339338.1:n.-385C>T | |
| NM_001352410.1:c.-528C>T | NP_001339339.1:n.-528C>T | |
| NM_001352413.1:c.-528C>T | NP_001339342.1:n.-528C>T | |
| NM_001352417.1:c.-11C>T | NP_001339346.1:n.-11C>T | |
| NM_001352418.1:c.-11C>T | NP_001339347.1:n.-11C>T | |
| XM_005277723.5:c.-11C>T | XP_005277780.1:n.-11C>T | |
| XM_006718913.3:c.-11C>T | XP_006718976.1:n.-11C>T | |
| XM_011542992.2:c.-11C>T | XP_011541294.1:n.-11C>T | |
| XM_017018313.2:c.-11C>T | XP_016873802.1:n.-11C>T | |
| XM_017018314.2:c.-11C>T | XP_016873803.1:n.-11C>T | |
| XM_024448695.1:c.-11C>T | XP_024304463.1:n.-11C>T | |
| XR_001747967.2:n.78C>T | ||
| XR_001747968.2:n.78C>T | ||
| XR_001747969.2:n.78C>T | ||
| XR_001747970.2:n.78C>T | ||
| XR_001747973.1:n.89C>T | ||
| XR_001747980.1:n.58C>T | ||
| XR_947863.3:n.78C>T | ||
| XR_947864.2:n.78C>T | ||
| XR_947865.2:n.78C>T |