Linked Data
ClinVar Variation Id:
403492
dbSNP Id:
rs61754171
ExAC:
12:56737257 A / G
gnomAD v2:
12-56737257-A-G
gnomAD v3:
12-56343473-A-G
gnomAD v4:
12-56343473-A-G
COSMIC:
COSM4595159
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56343473A>G , CM000674.2:g.56343473A>G | GRCh38 |
| NC_000012.11:g.56737257A>G , CM000674.1:g.56737257A>G | GRCh37 |
| NC_000012.10:g.55023524A>G | NCBI36 |
| NG_046314.1:g.21781T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555488.2:n.2355T>C | ||
| ENST00000698178.1:n.3063T>C | ||
| ENST00000698179.1:n.3015T>C | ||
| ENST00000698180.1:c.*2227T>C | ENSP00000513597.1:n.*2227T>C | |
| ENST00000698181.1:n.3509T>C | ||
| ENST00000698182.1:n.3282T>C | ||
| ENST00000698183.1:n.3742T>C | ||
| ENST00000698184.1:n.3516T>C | ||
| ENST00000698185.1:n.3675T>C | ||
| ENST00000698186.1:c.2340T>C | ENSP00000513598.1:p.Ala780= | |
| ENST00000698187.1:n.2787T>C | ||
| ENST00000698188.1:n.3139T>C | ||
| ENST00000698189.1:n.4549T>C | ||
| ENST00000698190.1:n.3130T>C | ||
| ENST00000698191.1:n.3063T>C | ||
| ENST00000698192.1:c.2472T>C | ENSP00000513599.1:p.Ala824= | |
| ENST00000698193.1:c.*344T>C | ENSP00000513600.1:n.*344T>C | |
| ENST00000314128.9:c.2472T>C MANE Select | ENSP00000315768.4:p.Ala824= | |
| ENST00000556140.6:n.3244T>C | ||
| ENST00000650805.1:c.*1906T>C | ENSP00000498710.1:n.*1906T>C | |
| ENST00000651078.1:n.3125T>C | ||
| ENST00000651301.1:c.*2146T>C | ENSP00000498470.1:n.*2146T>C | |
| ENST00000651339.1:n.1207T>C | ||
| ENST00000651805.1:n.2861T>C | ||
| ENST00000651915.1:c.2373T>C | ENSP00000498876.1:p.Ala791= | |
| ENST00000651934.1:n.2912T>C | ||
| ENST00000651967.1:n.2587T>C | ||
| ENST00000652091.1:n.2990T>C | ||
| ENST00000652398.1:c.*2038T>C | ENSP00000499022.1:n.*2038T>C | |
| ENST00000652624.1:c.*1598T>C | ENSP00000499108.1:n.*1598T>C | |
| ENST00000652741.1:c.*2227T>C | ENSP00000498704.1:n.*2227T>C | |
| ENST00000314128.8:c.2472T>C | ENSP00000315768.4:p.Ala824= | |
| ENST00000556539.5:n.1402T>C | ||
| ENST00000557235.5:c.2460T>C | ENSP00000450751.1:p.Ala820= | |
| NM_005419.3:c.2472T>C | NP_005410.1:p.Ala824= | |
| NM_198332.1:c.2460T>C | NP_938146.1:p.Ala820= | |
| XM_011538697.1:c.2496T>C | XP_011536999.1:p.Ala832= | |
| XM_011538698.1:c.2484T>C | XP_011537000.1:p.Ala828= | |
| XM_011538700.1:c.1764T>C | XP_011537002.1:p.Ala588= | |
| XM_011538701.1:c.1527T>C | XP_011537003.1:p.Ala509= | |
| XM_011538697.2:c.2496T>C | XP_011536999.1:p.Ala832= | |
| XM_011538698.3:c.2484T>C | XP_011537000.1:p.Ala828= | |
| XM_011538700.2:c.1764T>C | XP_011537002.1:p.Ala588= | |
| XM_017019904.2:c.1740T>C | XP_016875393.1:p.Ala580= | |
| XR_001748856.1:n.2395T>C | ||
| XR_001748857.1:n.2476T>C | ||
| XR_001748858.2:n.2353T>C | ||
| XR_002957375.1:n.2767T>C | ||
| XR_002957376.1:n.2725T>C | ||
| NM_005419.4:c.2472T>C MANE Select | NP_005410.1:p.Ala824= | |
| NM_198332.2:c.2460T>C | NP_938146.1:p.Ala820= | |
| NM_001385110.1:c.2439T>C | NP_001372039.1:p.Ala813= | |
| NM_001385111.1:c.2373T>C | NP_001372040.1:p.Ala791= | |
| NM_001385113.1:c.*41T>C | NP_001372042.1:n.*41T>C | |
| NM_001385114.1:c.2451T>C | NP_001372043.1:p.Ala817= | |
| NM_001385115.1:c.2430T>C | NP_001372044.1:p.Ala810= |