Linked Data
dbSNP Id:
rs1343735219
gnomAD v2:
6-37278886-A-G
gnomAD v3:
6-37311110-A-G
gnomAD v4:
6-37311110-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.37311110A>G , CM000668.2:g.37311110A>G | GRCh38 |
| NC_000006.11:g.37278886A>G , CM000668.1:g.37278886A>G | GRCh37 |
| NC_000006.10:g.37386864A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373491.3:c.983-1808A>G MANE Select | ENSP00000362590.3:n.983-1808A>G | |
| NM_017772.3:c.983-1808A>G | NP_060242.2:n.983-1808A>G | |
| NR_130108.1:n.1258-1808A>G | ||
| XM_011514738.1:c.983-1808A>G | XP_011513040.1:n.983-1808A>G | |
| XM_011514739.1:c.983-1808A>G | XP_011513041.1:n.983-1808A>G | |
| XR_241906.1:n.1034-1808A>G | ||
| XR_427833.1:n.1149-1770A>G | ||
| XR_926270.1:n.1149-1770A>G | ||
| XM_011514738.3:c.983-1808A>G | XP_011513040.1:n.983-1808A>G | |
| XM_011514739.2:c.983-1808A>G | XP_011513041.1:n.983-1808A>G | |
| XR_241906.2:n.1014-1808A>G | ||
| XR_427833.2:n.1129-1770A>G | ||
| XR_926270.3:n.1129-1770A>G | ||
| NM_017772.4:c.983-1808A>G MANE Select | NP_060242.2:n.983-1808A>G | |
| NR_130108.2:n.1190-1808A>G |