Linked Data
ClinVar Variation Id:
137298
dbSNP Id:
rs116297724
gnomAD v2:
2-207630471-A-G
gnomAD v3:
2-206765747-A-G
gnomAD v4:
2-206765747-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206765747A>G , CM000664.2:g.206765747A>G | GRCh38 |
| NC_000002.11:g.207630471A>G , CM000664.1:g.207630471A>G | GRCh37 |
| NC_000002.10:g.207338716A>G | NCBI36 |
| NG_008984.1:g.5360A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402774.8:c.-51A>G MANE Select | ENSP00000385990.3:n.-51A>G | |
| ENST00000236980.10:c.-51+93A>G | ENSP00000236980.6:n.-51+93A>G | |
| ENST00000402774.7:c.-51A>G | ENSP00000385990.3:n.-51A>G | |
| ENST00000403094.3:c.-66A>G | ENSP00000384929.3:n.-66A>G | |
| ENST00000418289.1:c.-51+229A>G | ENSP00000409927.1:n.-51+229A>G | |
| ENST00000487777.5:n.8+93A>G | ||
| NM_001136193.1:c.-51A>G | NP_001129665.1:n.-51A>G | |
| NM_001136194.1:c.-66A>G | NP_001129666.1:n.-66A>G | |
| NM_014929.3:c.-51+93A>G | NP_055744.2:n.-51+93A>G | |
| NM_001136193.2:c.-51A>G MANE Select | NP_001129665.1:n.-51A>G | |
| NM_001136194.2:c.-66A>G | NP_001129666.1:n.-66A>G | |
| NM_014929.4:c.-51+93A>G | NP_055744.2:n.-51+93A>G |