Linked Data
dbSNP Id:
rs10439478
gnomAD v2:
2-54459450-A-G
gnomAD v3:
2-54232313-A-G
gnomAD v4:
2-54232313-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.54232313A>G , CM000664.2:g.54232313A>G | GRCh38 |
| NC_000002.11:g.54459450A>G , CM000664.1:g.54459450A>G | GRCh37 |
| NC_000002.10:g.54312954A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394666.9:c.186-72375A>G MANE Select | ENSP00000378161.3:n.186-72375A>G | |
| ENST00000394666.8:c.186-72375A>G | ENSP00000378161.3:n.186-72375A>G | |
| ENST00000607452.6:c.405-72375A>G | ENSP00000475986.1:n.405-72375A>G | |
| ENST00000303536.8:c.270-34983A>G | ENSP00000306448.4:n.270-34983A>G | |
| ENST00000394666.7:c.186-72375A>G | ENSP00000378161.3:n.186-72375A>G | |
| ENST00000494922.6:c.265+9230A>G | ||
| ENST00000606865.1:c.138-72375A>G | ENSP00000475333.1:n.138-72375A>G | |
| ENST00000607452.5:c.405-72375A>G | ENSP00000475986.1:n.405-72375A>G | |
| NM_138448.3:c.186-72375A>G | NP_612457.1:n.186-72375A>G | |
| NM_001320586.1:c.405-72375A>G | NP_001307515.1:n.405-72375A>G | |
| NM_001320587.1:c.312-72375A>G | NP_001307516.1:n.312-72375A>G | |
| NM_001320588.1:c.114-72375A>G | NP_001307517.1:n.114-72375A>G | |
| NM_001320589.1:c.186-34983A>G | NP_001307518.1:n.186-34983A>G | |
| XM_017005411.1:c.486-72375A>G | XP_016860900.1:n.486-72375A>G | |
| XM_017005412.1:c.486-34983A>G | XP_016860901.1:n.486-34983A>G | |
| XM_017005413.1:c.*23-72375A>G | XP_016860902.1:n.*23-72375A>G | |
| XR_001739083.1:n.1092+9230A>G | ||
| NM_001320586.2:c.405-72375A>G | NP_001307515.1:n.405-72375A>G | |
| NM_001320587.2:c.312-72375A>G | NP_001307516.1:n.312-72375A>G | |
| NM_001320588.2:c.114-72375A>G | NP_001307517.1:n.114-72375A>G | |
| NM_001320589.2:c.186-34983A>G | NP_001307518.1:n.186-34983A>G | |
| NM_138448.4:c.186-72375A>G MANE Select | NP_612457.1:n.186-72375A>G |