Linked Data
dbSNP Id:
rs1418979562
gnomAD v2:
7-70231020-C-T
gnomAD v3:
7-70766034-C-T
gnomAD v4:
7-70766034-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70766034C>T , CM000669.2:g.70766034C>T | GRCh38 |
| NC_000007.13:g.70231020C>T , CM000669.1:g.70231020C>T | GRCh37 |
| NC_000007.12:g.69868956C>T | NCBI36 |
| NG_034133.1:g.1172116C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342771.10:c.1469-80C>T MANE Select | ENSP00000344087.4:n.1469-80C>T | |
| ENST00000443672.2:c.-197-80C>T | ENSP00000393548.2:n.-197-80C>T | |
| ENST00000644359.1:c.95-80C>T | ENSP00000494561.1:n.95-80C>T | |
| ENST00000644506.1:c.95-80C>T | ENSP00000496672.1:n.95-80C>T | |
| ENST00000644939.1:c.1466-80C>T | ENSP00000496726.1:n.1466-80C>T | |
| ENST00000647140.1:c.313-80C>T | ||
| ENST00000656200.1:c.95-80C>T | ENSP00000499508.1:n.95-80C>T | |
| ENST00000342771.8:c.1469-80C>T | ENSP00000344087.4:n.1469-80C>T | |
| ENST00000406775.6:c.1469-80C>T | ENSP00000385263.2:n.1469-80C>T | |
| ENST00000443672.1:c.94-80C>T | ||
| ENST00000481994.1:n.76-80C>T | ||
| ENST00000611706.4:c.725-80C>T | ENSP00000478134.1:n.725-80C>T | |
| ENST00000615871.4:c.725-80C>T | ENSP00000479325.1:n.725-80C>T | |
| NM_001127231.2:c.1469-80C>T | NP_001120703.1:n.1469-80C>T | |
| NM_015570.3:c.1469-80C>T | NP_056385.1:n.1469-80C>T | |
| XM_005250257.1:c.95-80C>T | XP_005250314.1:n.95-80C>T | |
| XM_011516010.1:c.1469-80C>T | XP_011514312.1:n.1469-80C>T | |
| XM_011516011.1:c.1466-80C>T | XP_011514313.1:n.1466-80C>T | |
| XM_011516012.1:c.1469-80C>T | XP_011514314.1:n.1469-80C>T | |
| XM_011516013.1:c.1469-80C>T | XP_011514315.1:n.1469-80C>T | |
| XM_011516014.1:c.1469-80C>T | XP_011514316.1:n.1469-80C>T | |
| XM_011516015.1:c.1469-80C>T | XP_011514317.1:n.1469-80C>T | |
| XM_011516016.1:c.1178-80C>T | XP_011514318.1:n.1178-80C>T | |
| XM_011516017.1:c.995-80C>T | XP_011514319.1:n.995-80C>T | |
| XM_011516018.1:c.968-80C>T | XP_011514320.1:n.968-80C>T | |
| XM_005250257.2:c.95-80C>T | XP_005250314.1:n.95-80C>T | |
| XM_011516010.2:c.1469-80C>T | XP_011514312.1:n.1469-80C>T | |
| XM_011516011.2:c.1466-80C>T | XP_011514313.1:n.1466-80C>T | |
| XM_011516012.2:c.1469-80C>T | XP_011514314.1:n.1469-80C>T | |
| XM_011516013.2:c.1469-80C>T | XP_011514315.1:n.1469-80C>T | |
| XM_011516014.2:c.1469-80C>T | XP_011514316.1:n.1469-80C>T | |
| XM_011516017.2:c.995-80C>T | XP_011514319.1:n.995-80C>T | |
| XM_011516018.2:c.968-80C>T | XP_011514320.1:n.968-80C>T | |
| XM_017011951.2:c.1469-80C>T | XP_016867440.1:n.1469-80C>T | |
| NM_001127231.3:c.1469-80C>T | NP_001120703.1:n.1469-80C>T | |
| NM_015570.4:c.1469-80C>T MANE Select | NP_056385.1:n.1469-80C>T |