Linked Data
dbSNP Id:
rs1056559728
gnomAD v2:
7-29438001-C-G
gnomAD v3:
7-29398385-C-G
gnomAD v4:
7-29398385-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.29398385C>G , CM000669.2:g.29398385C>G | GRCh38 |
| NC_000007.13:g.29438001C>G , CM000669.1:g.29438001C>G | GRCh37 |
| NC_000007.12:g.29404526C>G | NCBI36 |
| NG_029365.2:g.256839C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409350.6:c.228C>G | ENSP00000386968.2:p.Ile76Met | |
| ENST00000439384.6:n.451C>G | ||
| ENST00000446446.6:c.189C>G | ENSP00000396867.2:p.Ile63Met | |
| ENST00000706158.1:c.*133C>G | ENSP00000516236.1:n.*133C>G | |
| ENST00000706159.1:c.101C>G | ENSP00000516237.1:p.Ser34Ter | |
| ENST00000706160.1:c.189C>G | ENSP00000516238.1:p.Ile63Met | |
| ENST00000706161.1:c.267C>G | ENSP00000516239.1:p.Ile89Met | |
| ENST00000706162.1:c.189C>G | ENSP00000516240.1:p.Ile63Met | |
| ENST00000706163.1:c.50-81894C>G | ENSP00000516241.1:n.50-81894C>G | |
| ENST00000222792.11:c.189C>G MANE Select | ENSP00000222792.7:p.Ile63Met | |
| ENST00000644824.1:c.414C>G | ENSP00000495614.1:p.Ile138Met | |
| ENST00000222792.10:c.189C>G | ENSP00000222792.6:p.Ile63Met | |
| ENST00000409350.5:c.228C>G | ENSP00000386968.1:p.Ile76Met | |
| ENST00000409922.5:n.400C>G | ||
| ENST00000409964.6:n.388C>G | ||
| ENST00000412536.5:n.209C>G | ||
| ENST00000435288.6:c.168+4683C>G | ENSP00000400282.3:n.168+4683C>G | |
| ENST00000439384.5:c.414C>G | ENSP00000409843.1:p.Ile138Met | |
| ENST00000474070.5:c.289C>G | ||
| ENST00000478128.6:n.283C>G | ||
| ENST00000482820.6:n.398C>G | ||
| ENST00000491856.1:n.1738C>G | ||
| ENST00000495789.6:c.189C>G | ENSP00000438587.2:p.Ile63Met | |
| ENST00000539389.5:c.189C>G | ENSP00000440526.2:p.Ile63Met | |
| ENST00000539406.5:c.189C>G | ENSP00000444063.2:p.Ile63Met | |
| NM_001293069.1:c.414C>G | NP_001279998.1:p.Ile138Met | |
| NM_001293070.1:c.228C>G | NP_001279999.1:p.Ile76Met | |
| NM_001293071.1:c.84C>G | NP_001280000.1:p.Ile28Met | |
| NM_001293072.1:c.144C>G | NP_001280001.1:p.Ile48Met | |
| NM_004067.3:c.189C>G | NP_004058.1:p.Ile63Met | |
| XM_011515105.1:c.492C>G | XP_011513407.1:p.Ile164Met | |
| XM_011515106.1:c.453C>G | XP_011513408.1:p.Ile151Met | |
| XM_011515107.1:c.267C>G | XP_011513409.1:p.Ile89Met | |
| XM_011515108.1:c.189C>G | XP_011513410.1:p.Ile63Met | |
| XM_011515109.1:c.150C>G | XP_011513411.1:p.Ile50Met | |
| XM_011515110.1:c.111C>G | XP_011513412.1:p.Ile37Met | |
| XM_011515111.1:c.84C>G | XP_011513413.1:p.Ile28Met | |
| XM_011515112.1:c.492C>G | XP_011513414.1:p.Ile164Met | |
| XM_011515105.2:c.492C>G | XP_011513407.1:p.Ile164Met | |
| XM_011515106.2:c.453C>G | XP_011513408.1:p.Ile151Met | |
| XM_011515107.2:c.267C>G | XP_011513409.1:p.Ile89Met | |
| XM_017011721.1:c.510C>G | XP_016867210.1:p.Ile170Met | |
| XM_017011722.1:c.285C>G | XP_016867211.1:p.Ile95Met | |
| NM_004067.4:c.189C>G MANE Select | NP_004058.1:p.Ile63Met | |
| NM_001293070.2:c.228C>G | NP_001279999.1:p.Ile76Met | |
| NM_001293071.2:c.84C>G | NP_001280000.1:p.Ile28Met | |
| NM_001293072.2:c.144C>G | NP_001280001.1:p.Ile48Met | |
| NM_001398427.1:c.-250C>G | NP_001385356.1:n.-250C>G |