Linked Data
dbSNP Id:
rs780023948
ExAC:
7:70242038 G / A
gnomAD v2:
7-70242038-G-A
gnomAD v4:
7-70777052-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70777052G>A , CM000669.2:g.70777052G>A | GRCh38 |
| NC_000007.13:g.70242038G>A , CM000669.1:g.70242038G>A | GRCh37 |
| NC_000007.12:g.69879974G>A | NCBI36 |
| NG_034133.1:g.1183134G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342771.10:c.1933-51G>A MANE Select | ENSP00000344087.4:n.1933-51G>A | |
| ENST00000439256.2:c.31-51G>A | ENSP00000407058.2:n.31-51G>A | |
| ENST00000443672.2:c.268-51G>A | ENSP00000393548.2:n.268-51G>A | |
| ENST00000449547.6:c.26-51G>A | ||
| ENST00000464768.2:n.601-51G>A | ||
| ENST00000644359.1:c.514-51G>A | ENSP00000494561.1:n.514-51G>A | |
| ENST00000644506.1:c.559-51G>A | ENSP00000496672.1:n.559-51G>A | |
| ENST00000644939.1:c.1930-51G>A | ENSP00000496726.1:n.1930-51G>A | |
| ENST00000644949.1:c.264-51G>A | ||
| ENST00000646136.1:n.244-51G>A | ||
| ENST00000647140.1:c.798-51G>A | ||
| ENST00000342771.8:c.1933-51G>A | ENSP00000344087.4:n.1933-51G>A | |
| ENST00000406775.6:c.1861-51G>A | ENSP00000385263.2:n.1861-51G>A | |
| ENST00000439256.1:c.31-51G>A | ||
| ENST00000443672.1:c.513-51G>A | ||
| ENST00000464768.1:n.599-51G>A | ||
| ENST00000465899.1:n.379G>A | ||
| ENST00000498384.5:n.301-51G>A | ||
| ENST00000611706.4:c.1189-51G>A | ENSP00000478134.1:n.1189-51G>A | |
| ENST00000615871.4:c.1117-51G>A | ENSP00000479325.1:n.1117-51G>A | |
| NM_001127231.2:c.1861-51G>A | NP_001120703.1:n.1861-51G>A | |
| NM_015570.3:c.1933-51G>A | NP_056385.1:n.1933-51G>A | |
| XM_005250257.1:c.580-51G>A | XP_005250314.1:n.580-51G>A | |
| XM_011516010.1:c.1954-51G>A | XP_011514312.1:n.1954-51G>A | |
| XM_011516011.1:c.1951-51G>A | XP_011514313.1:n.1951-51G>A | |
| XM_011516012.1:c.1888-51G>A | XP_011514314.1:n.1888-51G>A | |
| XM_011516013.1:c.1882-51G>A | XP_011514315.1:n.1882-51G>A | |
| XM_011516014.1:c.1852-51G>A | XP_011514316.1:n.1852-51G>A | |
| XM_011516015.1:c.1690-51G>A | XP_011514317.1:n.1690-51G>A | |
| XM_011516016.1:c.1663-51G>A | XP_011514318.1:n.1663-51G>A | |
| XM_011516017.1:c.1480-51G>A | XP_011514319.1:n.1480-51G>A | |
| XM_011516018.1:c.1453-51G>A | XP_011514320.1:n.1453-51G>A | |
| XM_005250257.2:c.580-51G>A | XP_005250314.1:n.580-51G>A | |
| XM_011516010.2:c.1954-51G>A | XP_011514312.1:n.1954-51G>A | |
| XM_011516011.2:c.1951-51G>A | XP_011514313.1:n.1951-51G>A | |
| XM_011516012.2:c.1888-51G>A | XP_011514314.1:n.1888-51G>A | |
| XM_011516013.2:c.1882-51G>A | XP_011514315.1:n.1882-51G>A | |
| XM_011516014.2:c.1852-51G>A | XP_011514316.1:n.1852-51G>A | |
| XM_011516017.2:c.1480-51G>A | XP_011514319.1:n.1480-51G>A | |
| XM_011516018.2:c.1453-51G>A | XP_011514320.1:n.1453-51G>A | |
| XM_017011951.2:c.1954-51G>A | XP_016867440.1:n.1954-51G>A | |
| NM_001127231.3:c.1861-51G>A | NP_001120703.1:n.1861-51G>A | |
| NM_015570.4:c.1933-51G>A MANE Select | NP_056385.1:n.1933-51G>A |