Linked Data
dbSNP Id:
rs1379972671
gnomAD v2:
1-1956012-A-G
gnomAD v3:
1-2024573-A-G
gnomAD v4:
1-2024573-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2024573A>G , CM000663.2:g.2024573A>G | GRCh38 |
| NC_000001.10:g.1956012A>G , CM000663.1:g.1956012A>G | GRCh37 |
| NC_000001.9:g.1945872A>G | NCBI36 |
| NG_008168.1:g.10245A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378585.7:c.69-369A>G MANE Select | ENSP00000367848.4:n.69-369A>G | |
| ENST00000638411.1:c.69-369A>G | ENSP00000491632.1:n.69-369A>G | |
| ENST00000638604.1:n.133-369A>G | ||
| ENST00000638771.1:c.69-369A>G | ENSP00000492435.1:n.69-369A>G | |
| ENST00000639045.1:c.*55-369A>G | ENSP00000491997.1:n.*55-369A>G | |
| ENST00000639777.1:n.304A>G | ||
| ENST00000639935.1:n.106-369A>G | ||
| ENST00000640030.1:c.9-369A>G | ENSP00000491411.1:n.9-369A>G | |
| ENST00000640067.1:c.69-369A>G | ENSP00000491844.1:n.69-369A>G | |
| ENST00000640423.1:n.78-369A>G | ||
| ENST00000640949.1:c.69-369A>G | ENSP00000492500.1:n.69-369A>G | |
| ENST00000378585.5:c.69-369A>G | ENSP00000367848.4:n.69-369A>G | |
| NM_000815.4:c.69-369A>G | NP_000806.2:n.69-369A>G | |
| XM_011541194.1:c.108-369A>G | XP_011539496.1:n.108-369A>G | |
| XM_011541194.3:c.108-369A>G | XP_011539496.1:n.108-369A>G | |
| XM_017000936.1:c.405A>G | XP_016856425.1:p.Gly135= | |
| NM_000815.5:c.69-369A>G MANE Select | NP_000806.2:n.69-369A>G |