Linked Data
ClinVar Variation Id:
2739223
ClinVar RCV Id:
RCV003506656
dbSNP Id:
rs1176835196
gnomAD v2:
6-74354117-A-C
gnomAD v3:
6-73644394-A-C
gnomAD v4:
6-73644394-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73644394A>C , CM000668.2:g.73644394A>C | GRCh38 |
| NC_000006.11:g.74354117A>C , CM000668.1:g.74354117A>C | GRCh37 |
| NC_000006.10:g.74410838A>C | NCBI36 |
| NG_008272.1:g.14621T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355773.6:c.291+13T>G MANE Select | ENSP00000348019.5:n.291+13T>G | |
| ENST00000355773.5:c.291+13T>G | ENSP00000348019.5:n.291+13T>G | |
| ENST00000481996.1:n.57+13T>G | ||
| NM_012434.4:c.291+13T>G | NP_036566.1:n.291+13T>G | |
| XM_005248710.2:c.240+13T>G | XP_005248767.1:n.240+13T>G | |
| XM_005248711.1:c.93+13T>G | XP_005248768.1:n.93+13T>G | |
| XM_011535750.1:c.291+13T>G | XP_011534052.1:n.291+13T>G | |
| XM_011535751.1:c.291+13T>G | XP_011534053.1:n.291+13T>G | |
| NM_012434.5:c.291+13T>G MANE Select | NP_036566.1:n.291+13T>G | |
| NM_001382629.1:c.61-2470T>G | NP_001369558.1:n.61-2470T>G | |
| NM_001382630.1:c.291+13T>G | NP_001369559.1:n.291+13T>G | |
| NM_001382631.1:c.312+13T>G | NP_001369560.1:n.312+13T>G | |
| NM_001382632.1:c.291+13T>G | NP_001369561.1:n.291+13T>G | |
| NM_001382633.1:c.291+13T>G | NP_001369562.1:n.291+13T>G | |
| NM_001382634.1:c.291+13T>G | NP_001369563.1:n.291+13T>G | |
| NM_001382635.1:c.291+13T>G | NP_001369564.1:n.291+13T>G | |
| NM_001382636.1:c.61-2470T>G | NP_001369565.1:n.61-2470T>G |