Linked Data
dbSNP Id:
rs7636
ExAC:
7:100490077 G / A
gnomAD v2:
7-100490077-G-A
gnomAD v3:
7-100892456-G-A
gnomAD v4:
7-100892456-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100892456G>A , CM000669.2:g.100892456G>A | GRCh38 |
| NC_000007.13:g.100490077G>A , CM000669.1:g.100490077G>A | GRCh37 |
| NC_000007.12:g.100328013G>A | NCBI36 |
| NG_007474.1:g.8465C>T | |
| NG_007474.2:g.8678C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241069.11:c.1431C>T MANE Select | ENSP00000241069.5:p.Pro477= | |
| ENST00000411582.4:c.1431C>T | ENSP00000404865.1:p.Pro477= | |
| ENST00000428317.7:c.1431C>T | ENSP00000414858.1:p.Pro477= | |
| ENST00000651875.1:n.1874C>T | ||
| ENST00000241069.9:c.1431C>T | ENSP00000241069.5:p.Pro477= | |
| ENST00000302913.8:c.1431C>T | ENSP00000303211.4:p.Pro477= | |
| ENST00000411582.1:c.1431C>T | ENSP00000404865.1:p.Pro477= | |
| ENST00000412389.5:c.1431C>T | ENSP00000394976.1:p.Pro477= | |
| ENST00000419336.6:c.1167C>T | ENSP00000403474.2:p.Pro389= | |
| ENST00000426415.5:c.1068+709C>T | ENSP00000397143.1:n.1068+709C>T | |
| ENST00000428317.5:c.1431C>T | ENSP00000414858.1:p.Pro477= | |
| ENST00000430554.1:c.1179+252C>T | ENSP00000399725.1:n.1179+252C>T | |
| ENST00000440755.5:c.1068+709C>T | ENSP00000410380.1:n.1068+709C>T | |
| ENST00000442452.1:c.*886C>T | ENSP00000415901.1:n.*886C>T | |
| ENST00000454485.5:c.1200+231C>T | ENSP00000390004.1:n.1200+231C>T | |
| NM_000665.4:c.1431C>T | NP_000656.1:p.Pro477= | |
| NM_001282449.1:c.1167C>T | NP_001269378.1:p.Pro389= | |
| NM_001302621.1:c.1431C>T | NP_001289550.1:p.Pro477= | |
| NM_001302622.1:c.1431C>T | NP_001289551.1:p.Pro477= | |
| NM_015831.2:c.1431C>T | NP_056646.1:p.Pro477= | |
| XM_006715995.2:c.1431C>T | XP_006716058.1:p.Pro477= | |
| XM_011516225.1:c.1929C>T | XP_011514527.1:p.Pro643= | |
| XM_011516226.1:c.1665C>T | XP_011514528.1:p.Pro555= | |
| XM_011516227.1:c.1431C>T | XP_011514529.1:p.Pro477= | |
| XM_011516228.1:c.1431C>T | XP_011514530.1:p.Pro477= | |
| XM_011516229.1:c.1431C>T | XP_011514531.1:p.Pro477= | |
| XR_927464.1:n.1802C>T | ||
| XR_927465.1:n.1614+709C>T | ||
| XM_011516225.2:c.1929C>T | XP_011514527.1:p.Pro643= | |
| XM_011516226.2:c.1665C>T | XP_011514528.1:p.Pro555= | |
| XM_011516228.2:c.1431C>T | XP_011514530.1:p.Pro477= | |
| XM_011516229.2:c.1431C>T | XP_011514531.1:p.Pro477= | |
| XM_017012219.2:c.1929C>T | XP_016867708.1:p.Pro643= | |
| XM_017012220.2:c.1665C>T | XP_016867709.1:p.Pro555= | |
| XM_024446768.1:c.1431C>T | XP_024302536.1:p.Pro477= | |
| XM_024446769.1:c.1431C>T | XP_024302537.1:p.Pro477= | |
| XM_024446770.1:c.1431C>T | XP_024302538.1:p.Pro477= | |
| XR_001744773.2:n.2534+709C>T | ||
| XR_927464.3:n.2727C>T | ||
| XR_927465.3:n.2534+709C>T | ||
| NM_000665.5:c.1431C>T MANE Select | NP_000656.1:p.Pro477= | |
| NM_001282449.2:c.1167C>T | NP_001269378.1:p.Pro389= | |
| NM_001302621.2:c.1431C>T | NP_001289550.1:p.Pro477= | |
| NM_001302622.2:c.1431C>T | NP_001289551.1:p.Pro477= | |
| NM_001367915.1:c.1431C>T | NP_001354844.1:p.Pro477= | |
| NM_001367917.1:c.1431C>T | NP_001354846.1:p.Pro477= | |
| NM_001367918.1:c.1632C>T | NP_001354847.1:p.Pro544= | |
| NM_001367919.1:c.1629C>T | NP_001354848.1:p.Pro543= | |
| NR_160407.1:n.1533+709C>T | ||
| NR_160408.1:n.1175+709C>T | ||
| NM_001302621.3:c.1431C>T | NP_001289550.1:p.Pro477= | |
| NM_001367919.2:c.1629C>T | NP_001354848.1:p.Pro543= | |
| NR_160408.2:n.1175+709C>T |