Linked Data
ClinVar Variation Id:
350026
dbSNP Id:
rs201679112
ExAC:
4:88986657 A / G
gnomAD v2:
4-88986657-A-G
gnomAD v3:
4-88065505-A-G
gnomAD v4:
4-88065505-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88065505A>G , CM000666.2:g.88065505A>G | GRCh38 |
| NC_000004.11:g.88986657A>G , CM000666.1:g.88986657A>G | GRCh37 |
| NC_000004.10:g.89205681A>G | NCBI36 |
| NG_008604.1:g.62838A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.2240+10A>G MANE Select | ENSP00000237596.2:n.2240+10A>G | |
| ENST00000237596.6:c.2240+10A>G | ENSP00000237596.2:n.2240+10A>G | |
| ENST00000502363.1:c.494+10A>G | ENSP00000425289.1:n.494+10A>G | |
| ENST00000508588.5:c.494+10A>G | ENSP00000427131.1:n.494+10A>G | |
| ENST00000511337.5:n.492+10A>G | ||
| ENST00000512858.1:n.462A>G | ||
| NM_000297.3:c.2240+10A>G | NP_000288.1:n.2240+10A>G | |
| XM_011532028.1:c.2015+10A>G | XP_011530330.1:n.2015+10A>G | |
| XM_011532029.1:c.1520+10A>G | XP_011530331.1:n.1520+10A>G | |
| XM_011532030.1:c.1400+10A>G | XP_011530332.1:n.1400+10A>G | |
| NR_156488.1:n.2206+10A>G | ||
| XM_011532028.2:c.2015+10A>G | XP_011530330.1:n.2015+10A>G | |
| XM_011532030.2:c.1400+10A>G | XP_011530332.1:n.1400+10A>G | |
| NM_000297.4:c.2240+10A>G MANE Select | NP_000288.1:n.2240+10A>G | |
| NR_156488.2:n.2218+10A>G |