Linked Data
dbSNP Id:
rs937108643
gnomAD v2:
7-87466772-T-C
gnomAD v3:
7-87837457-T-C
gnomAD v4:
7-87837457-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87837457T>C , CM000669.2:g.87837457T>C | GRCh38 |
| NC_000007.13:g.87466772T>C , CM000669.1:g.87466772T>C | GRCh37 |
| NC_000007.12:g.87304708T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341119.10:c.824-647A>G MANE Select | ENSP00000344831.5:n.824-647A>G | |
| ENST00000341119.9:c.824-647A>G | ENSP00000344831.5:n.824-647A>G | |
| ENST00000429674.5:c.*641-647A>G | ENSP00000405566.1:n.*641-647A>G | |
| ENST00000446236.5:c.*187-647A>G | ENSP00000401473.1:n.*187-647A>G | |
| ENST00000470328.1:n.636-1096A>G | ||
| ENST00000496348.5:n.110-647A>G | ||
| NM_018843.3:c.824-647A>G | NP_061331.2:n.824-647A>G | |
| XM_005250496.3:c.824-647A>G | XP_005250553.1:n.824-647A>G | |
| XM_011516401.1:c.824-647A>G | XP_011514703.1:n.824-647A>G | |
| XM_011516402.1:c.824-647A>G | XP_011514704.1:n.824-647A>G | |
| XM_011516403.1:c.824-1096A>G | XP_011514705.1:n.824-1096A>G | |
| XM_011516404.1:c.638-647A>G | XP_011514706.1:n.638-647A>G | |
| XM_011516405.1:c.638-647A>G | XP_011514707.1:n.638-647A>G | |
| XR_927490.1:n.1300-647A>G | ||
| NM_018843.4:c.824-647A>G MANE Select | NP_061331.2:n.824-647A>G |