Linked Data
dbSNP Id:
rs753570126
ExAC:
17:42332038 A / C
gnomAD v2:
17-42332038-A-C
gnomAD v3:
17-44254670-A-C
gnomAD v4:
17-44254670-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44254670A>C , CM000679.2:g.44254670A>C | GRCh38 |
| NC_000017.10:g.42332038A>C , CM000679.1:g.42332038A>C | GRCh37 |
| NC_000017.9:g.39687564A>C | NCBI36 |
| NG_007498.1:g.18465T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.1891-8T>G MANE Select | ENSP00000262418.6:n.1891-8T>G | |
| ENST00000262418.10:c.1891-8T>G | ENSP00000262418.6:n.1891-8T>G | |
| ENST00000399246.3:c.793-8T>G | ENSP00000382190.3:n.793-8T>G | |
| NM_000342.3:c.1891-8T>G | NP_000333.1:n.1891-8T>G | |
| XM_005257593.3:c.1696-8T>G | XP_005257650.1:n.1696-8T>G | |
| XM_011525129.1:c.1801-8T>G | XP_011523431.1:n.1801-8T>G | |
| XM_011525130.1:c.1891-8T>G | XP_011523432.1:n.1891-8T>G | |
| XM_011525131.1:c.1891-8T>G | XP_011523433.1:n.1891-8T>G | |
| XM_005257593.5:c.1696-8T>G | XP_005257650.1:n.1696-8T>G | |
| XM_011525129.2:c.1801-8T>G | XP_011523431.1:n.1801-8T>G | |
| NM_000342.4:c.1891-8T>G MANE Select | NP_000333.1:n.1891-8T>G |