Linked Data
dbSNP Id:
rs753906400
ExAC:
2:27532874 A / C
gnomAD v2:
2-27532874-A-C
gnomAD v4:
2-27310006-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27310006A>C , CM000664.2:g.27310006A>C | GRCh38 |
| NC_000002.11:g.27532874A>C , CM000664.1:g.27532874A>C | GRCh37 |
| NC_000002.10:g.27386378A>C | NCBI36 |
| NG_008075.1:g.17558T>G | |
| NG_033055.1:g.3257T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.462-25T>G MANE Select | ENSP00000369383.1:n.462-25T>G | |
| ENST00000233545.6:c.462-25T>G | ENSP00000233545.2:n.462-25T>G | |
| ENST00000357186.10:c.294-25T>G | ENSP00000349713.6:n.294-25T>G | |
| ENST00000380044.5:c.462-25T>G | ENSP00000369383.1:n.462-25T>G | |
| ENST00000402310.5:c.409-25T>G | ENSP00000383955.1:n.409-25T>G | |
| ENST00000402722.5:c.*41-25T>G | ENSP00000386000.1:n.*41-25T>G | |
| ENST00000405076.5:c.273-25T>G | ENSP00000385175.1:n.273-25T>G | |
| ENST00000405983.5:c.507-25T>G | ENSP00000384586.1:n.507-25T>G | |
| ENST00000415514.5:c.*263-25T>G | ENSP00000388043.1:n.*263-25T>G | |
| ENST00000426513.6:c.*127-25T>G | ENSP00000403824.2:n.*127-25T>G | |
| ENST00000430991.5:c.296-25T>G | ||
| ENST00000620797.4:n.135-25T>G | ||
| ENST00000621183.4:n.765-25T>G | ||
| NM_002437.4:c.462-25T>G | NP_002428.1:n.462-25T>G | |
| XM_005264326.2:c.462-25T>G | XP_005264383.1:n.462-25T>G | |
| XM_005264327.2:c.303-25T>G | XP_005264384.1:n.303-25T>G | |
| XM_006712021.2:c.414-25T>G | XP_006712084.1:n.414-25T>G | |
| XM_005264326.4:c.462-25T>G | XP_005264383.1:n.462-25T>G | |
| XM_006712021.3:c.414-25T>G | XP_006712084.1:n.414-25T>G | |
| XM_017004150.1:c.444-25T>G | XP_016859639.1:n.444-25T>G | |
| XM_017004151.1:c.414-25T>G | XP_016859640.1:n.414-25T>G | |
| XM_017004152.1:c.303-25T>G | XP_016859641.1:n.303-25T>G | |
| XM_024452913.1:c.414-25T>G | XP_024308681.1:n.414-25T>G | |
| NM_002437.5:c.462-25T>G MANE Select | NP_002428.1:n.462-25T>G |