Linked Data
ClinVar Variation Id:
39199
dbSNP Id:
rs11176013
ExAC:
12:40713873 A / G
gnomAD v2:
12-40713873-A-G
gnomAD v3:
12-40320071-A-G
gnomAD v4:
12-40320071-A-G
PubMed:
PMID:20301387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40320071A>G , CM000674.2:g.40320071A>G | GRCh38 |
| NC_000012.11:g.40713873A>G , CM000674.1:g.40713873A>G | GRCh37 |
| NC_000012.10:g.39000140A>G | NCBI36 |
| NG_011709.1:g.100061A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.4911A>G MANE Select | ENSP00000298910.7:p.Lys1637= | |
| ENST00000679360.1:c.*3820A>G | ENSP00000505368.1:n.*3820A>G | |
| ENST00000679532.1:c.685A>G | ||
| ENST00000680018.1:c.356A>G | ENSP00000505347.1:n.356A>G | |
| ENST00000680422.1:c.556A>G | ||
| ENST00000680425.1:c.183-963A>G | ENSP00000506459.1:n.183-963A>G | |
| ENST00000680453.1:c.473-963A>G | ||
| ENST00000680790.1:c.4656A>G | ENSP00000505335.1:p.Lys1552= | |
| ENST00000681136.1:n.895A>G | ||
| ENST00000681696.1:c.594A>G | ENSP00000505871.1:p.Lys198= | |
| ENST00000298910.11:c.4911A>G | ENSP00000298910.7:p.Lys1637= | |
| ENST00000430804.5:c.2207A>G | ||
| ENST00000479187.5:n.1592A>G | ||
| NM_198578.3:c.4911A>G | NP_940980.3:p.Lys1637= | |
| XM_005268629.2:c.4911A>G | XP_005268686.1:p.Lys1637= | |
| XM_011537877.1:c.4911A>G | XP_011536179.1:p.Lys1637= | |
| XM_011537878.1:c.4911A>G | XP_011536180.1:p.Lys1637= | |
| XM_011537879.1:c.3708A>G | XP_011536181.1:p.Lys1236= | |
| XM_011537881.1:c.4828-963A>G | XP_011536183.1:n.4828-963A>G | |
| XM_005268629.4:c.4911A>G | XP_005268686.1:p.Lys1637= | |
| XM_011537877.3:c.4911A>G | XP_011536179.1:p.Lys1637= | |
| XM_011537881.3:c.4828-963A>G | XP_011536183.1:n.4828-963A>G | |
| XM_017018787.1:c.1827A>G | XP_016874276.1:p.Lys609= | |
| XM_017018788.2:c.1173A>G | XP_016874277.1:p.Lys391= | |
| XM_024448833.1:c.3708A>G | XP_024304601.1:p.Lys1236= | |
| XR_001748574.2:n.5279A>G | ||
| NM_198578.4:c.4911A>G MANE Select | NP_940980.4:p.Lys1637= |