Linked Data
dbSNP Id:
rs748635299
ExAC:
7:70242181 G / A
gnomAD v2:
7-70242181-G-A
gnomAD v4:
7-70777195-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70777195G>A , CM000669.2:g.70777195G>A | GRCh38 |
| NC_000007.13:g.70242181G>A , CM000669.1:g.70242181G>A | GRCh37 |
| NC_000007.12:g.69880117G>A | NCBI36 |
| NG_034133.1:g.1183277G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700075.1:c.72+21G>A | ENSP00000514784.1:n.72+21G>A | |
| ENST00000342771.10:c.2004+21G>A MANE Select | ENSP00000344087.4:n.2004+21G>A | |
| ENST00000439256.2:c.123G>A | ENSP00000407058.2:p.Val41= | |
| ENST00000443672.2:c.339+21G>A | ENSP00000393548.2:n.339+21G>A | |
| ENST00000449547.6:c.97+21G>A | ||
| ENST00000464768.2:n.672+21G>A | ||
| ENST00000644359.1:c.585+21G>A | ENSP00000494561.1:n.585+21G>A | |
| ENST00000644506.1:c.630+21G>A | ENSP00000496672.1:n.630+21G>A | |
| ENST00000644939.1:c.2001+21G>A | ENSP00000496726.1:n.2001+21G>A | |
| ENST00000646136.1:n.315+21G>A | ||
| ENST00000647140.1:c.869+21G>A | ||
| ENST00000342771.8:c.2004+21G>A | ENSP00000344087.4:n.2004+21G>A | |
| ENST00000406775.6:c.1932+21G>A | ENSP00000385263.2:n.1932+21G>A | |
| ENST00000439256.1:c.123G>A | ||
| ENST00000464768.1:n.670+21G>A | ||
| ENST00000465899.1:n.501+21G>A | ||
| ENST00000498384.5:n.372+21G>A | ||
| ENST00000611706.4:c.1260+21G>A | ENSP00000478134.1:n.1260+21G>A | |
| ENST00000615871.4:c.1188+21G>A | ENSP00000479325.1:n.1188+21G>A | |
| NM_001127231.2:c.1932+21G>A | NP_001120703.1:n.1932+21G>A | |
| NM_015570.3:c.2004+21G>A | NP_056385.1:n.2004+21G>A | |
| XM_005250257.1:c.651+21G>A | XP_005250314.1:n.651+21G>A | |
| XM_011516010.1:c.2025+21G>A | XP_011514312.1:n.2025+21G>A | |
| XM_011516011.1:c.2022+21G>A | XP_011514313.1:n.2022+21G>A | |
| XM_011516012.1:c.1959+21G>A | XP_011514314.1:n.1959+21G>A | |
| XM_011516013.1:c.1953+21G>A | XP_011514315.1:n.1953+21G>A | |
| XM_011516014.1:c.1923+21G>A | XP_011514316.1:n.1923+21G>A | |
| XM_011516015.1:c.1761+21G>A | XP_011514317.1:n.1761+21G>A | |
| XM_011516016.1:c.1734+21G>A | XP_011514318.1:n.1734+21G>A | |
| XM_011516017.1:c.1551+21G>A | XP_011514319.1:n.1551+21G>A | |
| XM_011516018.1:c.1524+21G>A | XP_011514320.1:n.1524+21G>A | |
| XM_005250257.2:c.651+21G>A | XP_005250314.1:n.651+21G>A | |
| XM_011516010.2:c.2025+21G>A | XP_011514312.1:n.2025+21G>A | |
| XM_011516011.2:c.2022+21G>A | XP_011514313.1:n.2022+21G>A | |
| XM_011516012.2:c.1959+21G>A | XP_011514314.1:n.1959+21G>A | |
| XM_011516013.2:c.1953+21G>A | XP_011514315.1:n.1953+21G>A | |
| XM_011516014.2:c.1923+21G>A | XP_011514316.1:n.1923+21G>A | |
| XM_011516017.2:c.1551+21G>A | XP_011514319.1:n.1551+21G>A | |
| XM_011516018.2:c.1524+21G>A | XP_011514320.1:n.1524+21G>A | |
| XM_017011951.2:c.2025+21G>A | XP_016867440.1:n.2025+21G>A | |
| NM_001127231.3:c.1932+21G>A | NP_001120703.1:n.1932+21G>A | |
| NM_015570.4:c.2004+21G>A MANE Select | NP_056385.1:n.2004+21G>A |