Linked Data
dbSNP Id:
rs1209482975
gnomAD v2:
3-57263310-A-G
gnomAD v3:
3-57229282-A-G
gnomAD v4:
3-57229282-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.57229282A>G , CM000665.2:g.57229282A>G | GRCh38 |
| NC_000003.11:g.57263310A>G , CM000665.1:g.57263310A>G | GRCh37 |
| NC_000003.10:g.57238350A>G | NCBI36 |
| NG_047003.1:g.6546A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288266.8:c.54+1345A>G MANE Select | ENSP00000288266.3:n.54+1345A>G | |
| ENST00000650354.1:c.54+1345A>G | ENSP00000498115.1:n.54+1345A>G | |
| ENST00000288266.7:c.54+1345A>G | ENSP00000288266.3:n.54+1345A>G | |
| ENST00000444459.1:c.-52+1345A>G | ENSP00000406095.1:n.-52+1345A>G | |
| ENST00000468342.1:n.99+1345A>G | ||
| ENST00000482800.5:n.149+1345A>G | ||
| ENST00000495803.5:c.54+1345A>G | ENSP00000419644.1:n.54+1345A>G | |
| NM_012096.2:c.54+1345A>G | NP_036228.1:n.54+1345A>G | |
| XM_011533583.1:c.-52+1345A>G | XP_011531885.1:n.-52+1345A>G | |
| XM_011533583.3:c.-52+1345A>G | XP_011531885.1:n.-52+1345A>G | |
| NM_012096.3:c.54+1345A>G MANE Select | NP_036228.1:n.54+1345A>G |