Linked Data
dbSNP Id:
rs2285647
gnomAD v2:
7-87466971-G-A
gnomAD v3:
7-87837656-G-A
gnomAD v4:
7-87837656-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87837656G>A , CM000669.2:g.87837656G>A | GRCh38 |
| NC_000007.13:g.87466971G>A , CM000669.1:g.87466971G>A | GRCh37 |
| NC_000007.12:g.87304907G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341119.10:c.824-846C>T MANE Select | ENSP00000344831.5:n.824-846C>T | |
| ENST00000341119.9:c.824-846C>T | ENSP00000344831.5:n.824-846C>T | |
| ENST00000429674.5:c.*641-846C>T | ENSP00000405566.1:n.*641-846C>T | |
| ENST00000446236.5:c.*187-846C>T | ENSP00000401473.1:n.*187-846C>T | |
| ENST00000470328.1:n.636-1295C>T | ||
| ENST00000496348.5:n.110-846C>T | ||
| NM_018843.3:c.824-846C>T | NP_061331.2:n.824-846C>T | |
| XM_005250496.3:c.824-846C>T | XP_005250553.1:n.824-846C>T | |
| XM_011516401.1:c.824-846C>T | XP_011514703.1:n.824-846C>T | |
| XM_011516402.1:c.824-846C>T | XP_011514704.1:n.824-846C>T | |
| XM_011516403.1:c.824-1295C>T | XP_011514705.1:n.824-1295C>T | |
| XM_011516404.1:c.638-846C>T | XP_011514706.1:n.638-846C>T | |
| XM_011516405.1:c.638-846C>T | XP_011514707.1:n.638-846C>T | |
| XR_927490.1:n.1300-846C>T | ||
| NM_018843.4:c.824-846C>T MANE Select | NP_061331.2:n.824-846C>T |