Linked Data
dbSNP Id:
rs10237317
gnomAD v2:
7-70045941-A-G
gnomAD v3:
7-70580955-A-G
gnomAD v4:
7-70580955-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70580955A>G , CM000669.2:g.70580955A>G | GRCh38 |
| NC_000007.13:g.70045941A>G , CM000669.1:g.70045941A>G | GRCh37 |
| NC_000007.12:g.69683877A>G | NCBI36 |
| NG_034133.1:g.987037A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342771.10:c.691-117614A>G MANE Select | ENSP00000344087.4:n.691-117614A>G | |
| ENST00000644939.1:c.691-117614A>G | ENSP00000496726.1:n.691-117614A>G | |
| ENST00000342771.8:c.691-117614A>G | ENSP00000344087.4:n.691-117614A>G | |
| ENST00000406775.6:c.691-117614A>G | ENSP00000385263.2:n.691-117614A>G | |
| NM_001127231.2:c.691-117614A>G | NP_001120703.1:n.691-117614A>G | |
| NM_015570.3:c.691-117614A>G | NP_056385.1:n.691-117614A>G | |
| XM_011516010.1:c.691-117614A>G | XP_011514312.1:n.691-117614A>G | |
| XM_011516011.1:c.691-117614A>G | XP_011514313.1:n.691-117614A>G | |
| XM_011516012.1:c.691-117614A>G | XP_011514314.1:n.691-117614A>G | |
| XM_011516013.1:c.691-117614A>G | XP_011514315.1:n.691-117614A>G | |
| XM_011516014.1:c.691-117614A>G | XP_011514316.1:n.691-117614A>G | |
| XM_011516015.1:c.691-117614A>G | XP_011514317.1:n.691-117614A>G | |
| XM_011516016.1:c.400-117614A>G | XP_011514318.1:n.400-117614A>G | |
| XM_011516017.1:c.217-117614A>G | XP_011514319.1:n.217-117614A>G | |
| XM_011516018.1:c.190-117614A>G | XP_011514320.1:n.190-117614A>G | |
| XM_011516010.2:c.691-117614A>G | XP_011514312.1:n.691-117614A>G | |
| XM_011516011.2:c.691-117614A>G | XP_011514313.1:n.691-117614A>G | |
| XM_011516012.2:c.691-117614A>G | XP_011514314.1:n.691-117614A>G | |
| XM_011516013.2:c.691-117614A>G | XP_011514315.1:n.691-117614A>G | |
| XM_011516014.2:c.691-117614A>G | XP_011514316.1:n.691-117614A>G | |
| XM_011516017.2:c.217-117614A>G | XP_011514319.1:n.217-117614A>G | |
| XM_011516018.2:c.190-117614A>G | XP_011514320.1:n.190-117614A>G | |
| XM_017011951.2:c.691-117614A>G | XP_016867440.1:n.691-117614A>G | |
| NM_001127231.3:c.691-117614A>G | NP_001120703.1:n.691-117614A>G | |
| NM_015570.4:c.691-117614A>G MANE Select | NP_056385.1:n.691-117614A>G |