Linked Data
ClinVar Variation Id:
557222
ClinVar RCV Id:
RCV000673333
dbSNP Id:
rs923058912
gnomAD v2:
11-118898586-T-G
gnomAD v3:
11-119027876-T-G
gnomAD v4:
11-119027876-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027876T>G , CM000673.2:g.119027876T>G | GRCh38 |
| NC_000011.9:g.118898586T>G , CM000673.1:g.118898586T>G | GRCh37 |
| NC_000011.8:g.118403796T>G | NCBI36 |
| NG_013331.1:g.8031A>C , LRG_187:g.8031A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.611-4A>C | ||
| ENST00000697845.1:n.535-4A>C | ||
| ENST00000697846.1:n.611-4A>C | ||
| ENST00000697847.1:n.611-4A>C | ||
| ENST00000697848.1:n.611-4A>C | ||
| ENST00000697849.1:n.1650-4A>C | ||
| ENST00000697850.1:n.611-4A>C | ||
| ENST00000697851.1:n.1967A>C | ||
| ENST00000638186.1:n.685-4A>C | ||
| ENST00000638360.1:n.619-106A>C | ||
| ENST00000638925.1:n.618-4A>C | ||
| ENST00000650539.1:n.787-4A>C | ||
| ENST00000330775.9:c.382-4A>C | ENSP00000476242.2:n.382-4A>C | |
| ENST00000357590.9:c.382-4A>C | ENSP00000476176.2:n.382-4A>C | |
| ENST00000524428.5:n.699A>C | ||
| ENST00000525039.5:n.805-4A>C | ||
| ENST00000525102.5:n.1139-4A>C | ||
| ENST00000525372.5:n.382-4A>C | ||
| ENST00000525787.1:n.994A>C | ||
| ENST00000526275.5:n.1159A>C | ||
| ENST00000526626.6:n.344-4A>C | ||
| ENST00000527992.5:n.609-4A>C | ||
| ENST00000529510.5:n.399+318A>C | ||
| ENST00000530407.5:n.531-4A>C | ||
| ENST00000532085.1:n.2988A>C | ||
| ENST00000532888.6:n.677-4A>C | ||
| ENST00000538950.5:c.163-4A>C | ENSP00000475991.2:n.163-4A>C | |
| ENST00000545985.5:c.382-4A>C | ENSP00000475241.2:n.382-4A>C | |
| NM_001164277.1:c.382-4A>C , LRG_187t1:c.382-4A>C | NP_001157749.1:n.382-4A>C | |
| NM_001164278.1:c.382-4A>C | NP_001157750.1:n.382-4A>C | |
| NM_001164279.1:c.163-4A>C | NP_001157751.1:n.163-4A>C | |
| NM_001164280.1:c.382-4A>C | NP_001157752.1:n.382-4A>C | |
| NM_001467.5:c.382-4A>C | NP_001458.1:n.382-4A>C | |
| NM_001164278.2:c.382-4A>C | NP_001157750.1:n.382-4A>C | |
| NM_001164279.2:c.163-4A>C | NP_001157751.1:n.163-4A>C | |
| NM_001164280.2:c.382-4A>C | NP_001157752.1:n.382-4A>C | |
| NM_001467.6:c.382-4A>C | NP_001458.1:n.382-4A>C | |
| NM_001164277.2:c.382-4A>C MANE Select | NP_001157749.1:n.382-4A>C |