Linked Data
ClinVar Variation Id:
418738
dbSNP Id:
rs1064793399
gnomAD v2:
11-73760516-C-A
gnomAD v4:
11-74049471-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74049471C>A , CM000673.2:g.74049471C>A | GRCh38 |
| NC_000011.9:g.73760516C>A , CM000673.1:g.73760516C>A | GRCh37 |
| NC_000011.8:g.73438164C>A | NCBI36 |
| NG_041791.1:g.126549G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334126.12:c.5227G>T MANE Select | ENSP00000334379.7:p.Gly1743Cys | |
| ENST00000414160.7:c.5227G>T | ENSP00000388750.3:p.Gly1743Cys | |
| ENST00000442398.7:c.5227G>T | ENSP00000404577.3:p.Gly1743Cys | |
| ENST00000538361.2:c.5227G>T | ENSP00000441742.2:p.Gly1743Cys | |
| ENST00000538625.2:n.645G>T | ||
| ENST00000679415.1:c.*4675G>T | ENSP00000505672.1:n.*4675G>T | |
| ENST00000679906.1:c.5227G>T | ENSP00000505021.1:p.Gly1743Cys | |
| ENST00000679940.1:n.271G>T | ||
| ENST00000680231.1:c.5227G>T | ENSP00000505413.1:p.Gly1743Cys | |
| ENST00000680665.1:c.5492G>T | ENSP00000505527.1:n.5492G>T | |
| ENST00000680839.1:c.*4184G>T | ENSP00000506002.1:n.*4184G>T | |
| ENST00000681143.1:c.5091-7253G>T | ENSP00000505970.1:n.5091-7253G>T | |
| ENST00000681233.1:n.4553G>T | ||
| ENST00000681291.1:c.*4679G>T | ENSP00000505182.1:n.*4679G>T | |
| ENST00000681310.1:c.5227G>T | ENSP00000506236.1:p.Gly1743Cys | |
| ENST00000681385.1:c.*4475G>T | ENSP00000505069.1:n.*4475G>T | |
| ENST00000681609.1:c.*3795G>T | ENSP00000505133.1:n.*3795G>T | |
| ENST00000681811.1:c.5132G>T | ENSP00000506315.1:n.5132G>T | |
| ENST00000681829.1:c.5227G>T | ENSP00000505375.1:p.Gly1743Cys | |
| ENST00000681924.1:c.5323G>T | ENSP00000505101.1:n.5323G>T | |
| ENST00000313663.11:c.5227G>T | ENSP00000323339.7:p.Gly1743Cys | |
| ENST00000334126.11:c.5227G>T | ENSP00000334379.7:p.Gly1743Cys | |
| ENST00000414160.6:c.1651G>T | ENSP00000388750.2:p.Gly551Cys | |
| ENST00000442398.6:c.1495G>T | ENSP00000404577.2:p.Gly499Cys | |
| NM_001286577.1:c.5227G>T | NP_001273506.1:p.Gly1743Cys | |
| NM_015531.5:c.5227G>T | NP_056346.3:p.Gly1743Cys | |
| XM_005273893.3:c.5227G>T | XP_005273950.1:p.Gly1743Cys | |
| XM_005273896.3:c.4678G>T | XP_005273953.1:p.Gly1560Cys | |
| XM_011544903.1:c.5257G>T | XP_011543205.1:p.Gly1753Cys | |
| XM_011544904.1:c.5257G>T | XP_011543206.1:p.Gly1753Cys | |
| XM_011544905.1:c.5257G>T | XP_011543207.1:p.Gly1753Cys | |
| XM_011544906.1:c.3334G>T | XP_011543208.1:p.Gly1112Cys | |
| XM_011544907.1:c.*57G>T | XP_011543209.1:n.*57G>T | |
| XM_011544908.1:c.2551G>T | XP_011543210.1:p.Gly851Cys | |
| XM_011544909.1:c.2431G>T | XP_011543211.1:p.Gly811Cys | |
| XR_949869.1:n.5353G>T | ||
| XR_949870.1:n.5353G>T | ||
| XR_949871.1:n.5353G>T | ||
| XR_949872.1:n.5353G>T | ||
| XM_017017510.1:c.5257G>T | XP_016872999.1:p.Gly1753Cys | |
| XM_017017511.2:c.4678G>T | XP_016873000.1:p.Gly1560Cys | |
| XM_017017512.1:c.3688G>T | XP_016873001.1:p.Gly1230Cys | |
| XM_017017513.1:c.3334G>T | XP_016873002.1:p.Gly1112Cys | |
| XM_017017514.1:c.*68G>T | XP_016873003.1:n.*68G>T | |
| XM_017017515.2:c.2551G>T | XP_016873004.1:p.Gly851Cys | |
| XM_017017516.1:c.2431G>T | XP_016873005.1:p.Gly811Cys | |
| XR_001747826.1:n.5353G>T | ||
| XR_001747827.1:n.5214G>T | ||
| XR_001747828.2:n.5618G>T | ||
| NM_015531.6:c.5227G>T | NP_056346.3:p.Gly1743Cys | |
| NM_001286577.2:c.5227G>T MANE Select | NP_001273506.1:p.Gly1743Cys |