Linked Data
dbSNP Id:
rs769293624
ExAC:
7:70242067 A / G
gnomAD v2:
7-70242067-A-G
gnomAD v3:
7-70777081-A-G
gnomAD v4:
7-70777081-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70777081A>G , CM000669.2:g.70777081A>G | GRCh38 |
| NC_000007.13:g.70242067A>G , CM000669.1:g.70242067A>G | GRCh37 |
| NC_000007.12:g.69880003A>G | NCBI36 |
| NG_034133.1:g.1183163A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342771.10:c.1933-22A>G MANE Select | ENSP00000344087.4:n.1933-22A>G | |
| ENST00000439256.2:c.31-22A>G | ENSP00000407058.2:n.31-22A>G | |
| ENST00000443672.2:c.268-22A>G | ENSP00000393548.2:n.268-22A>G | |
| ENST00000449547.6:c.26-22A>G | ||
| ENST00000464768.2:n.601-22A>G | ||
| ENST00000644359.1:c.514-22A>G | ENSP00000494561.1:n.514-22A>G | |
| ENST00000644506.1:c.559-22A>G | ENSP00000496672.1:n.559-22A>G | |
| ENST00000644939.1:c.1930-22A>G | ENSP00000496726.1:n.1930-22A>G | |
| ENST00000644949.1:c.264-22A>G | ||
| ENST00000646136.1:n.244-22A>G | ||
| ENST00000647140.1:c.798-22A>G | ||
| ENST00000342771.8:c.1933-22A>G | ENSP00000344087.4:n.1933-22A>G | |
| ENST00000406775.6:c.1861-22A>G | ENSP00000385263.2:n.1861-22A>G | |
| ENST00000439256.1:c.31-22A>G | ||
| ENST00000443672.1:c.513-22A>G | ||
| ENST00000464768.1:n.599-22A>G | ||
| ENST00000465899.1:n.408A>G | ||
| ENST00000498384.5:n.301-22A>G | ||
| ENST00000611706.4:c.1189-22A>G | ENSP00000478134.1:n.1189-22A>G | |
| ENST00000615871.4:c.1117-22A>G | ENSP00000479325.1:n.1117-22A>G | |
| NM_001127231.2:c.1861-22A>G | NP_001120703.1:n.1861-22A>G | |
| NM_015570.3:c.1933-22A>G | NP_056385.1:n.1933-22A>G | |
| XM_005250257.1:c.580-22A>G | XP_005250314.1:n.580-22A>G | |
| XM_011516010.1:c.1954-22A>G | XP_011514312.1:n.1954-22A>G | |
| XM_011516011.1:c.1951-22A>G | XP_011514313.1:n.1951-22A>G | |
| XM_011516012.1:c.1888-22A>G | XP_011514314.1:n.1888-22A>G | |
| XM_011516013.1:c.1882-22A>G | XP_011514315.1:n.1882-22A>G | |
| XM_011516014.1:c.1852-22A>G | XP_011514316.1:n.1852-22A>G | |
| XM_011516015.1:c.1690-22A>G | XP_011514317.1:n.1690-22A>G | |
| XM_011516016.1:c.1663-22A>G | XP_011514318.1:n.1663-22A>G | |
| XM_011516017.1:c.1480-22A>G | XP_011514319.1:n.1480-22A>G | |
| XM_011516018.1:c.1453-22A>G | XP_011514320.1:n.1453-22A>G | |
| XM_005250257.2:c.580-22A>G | XP_005250314.1:n.580-22A>G | |
| XM_011516010.2:c.1954-22A>G | XP_011514312.1:n.1954-22A>G | |
| XM_011516011.2:c.1951-22A>G | XP_011514313.1:n.1951-22A>G | |
| XM_011516012.2:c.1888-22A>G | XP_011514314.1:n.1888-22A>G | |
| XM_011516013.2:c.1882-22A>G | XP_011514315.1:n.1882-22A>G | |
| XM_011516014.2:c.1852-22A>G | XP_011514316.1:n.1852-22A>G | |
| XM_011516017.2:c.1480-22A>G | XP_011514319.1:n.1480-22A>G | |
| XM_011516018.2:c.1453-22A>G | XP_011514320.1:n.1453-22A>G | |
| XM_017011951.2:c.1954-22A>G | XP_016867440.1:n.1954-22A>G | |
| NM_001127231.3:c.1861-22A>G | NP_001120703.1:n.1861-22A>G | |
| NM_015570.4:c.1933-22A>G MANE Select | NP_056385.1:n.1933-22A>G |