Linked Data
dbSNP Id:
rs4655595
gnomAD v2:
1-66558759-A-G
gnomAD v3:
1-66093076-A-G
gnomAD v4:
1-66093076-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.66093076A>G , CM000663.2:g.66093076A>G | GRCh38 |
| NC_000001.10:g.66558759A>G , CM000663.1:g.66558759A>G | GRCh37 |
| NC_000001.9:g.66331347A>G | NCBI36 |
| NG_029038.1:g.305567A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341517.9:c.282-154384A>G MANE Select | ENSP00000342637.4:n.282-154384A>G | |
| ENST00000329654.8:c.282-154384A>G | ENSP00000332116.4:n.282-154384A>G | |
| ENST00000341517.8:c.282-154384A>G | ENSP00000342637.4:n.282-154384A>G | |
| ENST00000423207.6:c.236+99934A>G | ENSP00000392947.2:n.236+99934A>G | |
| ENST00000526666.1:n.473+44186A>G | ||
| ENST00000531358.1:n.528-19694A>G | ||
| ENST00000532040.1:n.472+30119A>G | ||
| NM_001037340.2:c.236+99934A>G | NP_001032417.1:n.236+99934A>G | |
| NM_001037341.1:c.282-154384A>G | NP_001032418.1:n.282-154384A>G | |
| NM_001297440.1:c.6-154384A>G | NP_001284369.1:n.6-154384A>G | |
| NM_001297441.1:c.56+52368A>G | NP_001284370.1:n.56+52368A>G | |
| NM_002600.3:c.282-154384A>G | NP_002591.2:n.282-154384A>G | |
| XM_011541565.1:c.17+44186A>G | XP_011539867.1:n.17+44186A>G | |
| XM_011541566.1:c.-287-154384A>G | XP_011539868.1:n.-287-154384A>G | |
| NM_002600.4:c.282-154384A>G MANE Select | NP_002591.2:n.282-154384A>G | |
| NM_001037340.3:c.236+99934A>G | NP_001032417.1:n.236+99934A>G | |
| NM_001037341.2:c.282-154384A>G | NP_001032418.1:n.282-154384A>G | |
| NM_001297440.2:c.6-154384A>G | NP_001284369.1:n.6-154384A>G |