Linked Data
ClinVar Variation Id:
308548
dbSNP Id:
rs11171689
ExAC:
12:39698641 G / C
gnomAD v2:
12-39698641-G-C
gnomAD v3:
12-39304839-G-C
gnomAD v4:
12-39304839-G-C
COSMIC:
COSM147471
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.39304839G>C , CM000674.2:g.39304839G>C | GRCh38 |
| NC_000012.11:g.39698641G>C , CM000674.1:g.39698641G>C | GRCh37 |
| NC_000012.10:g.37984908G>C | NCBI36 |
| NG_017067.1:g.143552C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361418.10:c.4542C>G MANE Select | ENSP00000354878.5:p.Ser1514= | |
| ENST00000636569.1:c.4479C>G | ENSP00000490369.1:p.Ser1493= | |
| ENST00000361418.9:c.4542C>G | ENSP00000354878.5:p.Ser1514= | |
| ENST00000361961.7:c.4503C>G | ENSP00000354851.3:p.Ser1501= | |
| ENST00000541463.6:c.4383C>G | ENSP00000438075.2:p.Ser1461= | |
| ENST00000544797.6:c.4431C>G | ENSP00000445606.2:p.Ser1477= | |
| ENST00000547733.1:n.1856C>G | ||
| ENST00000551264.5:c.1485C>G | ENSP00000448792.1:p.Ser495= | |
| ENST00000552961.5:c.2444C>G | ||
| NM_001173463.1:c.4431C>G | NP_001166934.1:p.Ser1477= | |
| NM_001173464.1:c.4542C>G | NP_001166935.1:p.Ser1514= | |
| NM_001173465.1:c.4383C>G | NP_001166936.1:p.Ser1461= | |
| NM_017641.3:c.4503C>G | NP_060111.2:p.Ser1501= | |
| XM_005269007.1:c.4545C>G | XP_005269064.1:p.Ser1515= | |
| XM_005269008.1:c.4530C>G | XP_005269065.1:p.Ser1510= | |
| XM_005269009.1:c.4524C>G | XP_005269066.1:p.Ser1508= | |
| XM_005269010.1:c.4506C>G | XP_005269067.1:p.Ser1502= | |
| XM_005269011.1:c.4491C>G | XP_005269068.1:p.Ser1497= | |
| XM_005269012.1:c.4416C>G | XP_005269069.1:p.Ser1472= | |
| XM_005269013.1:c.4401C>G | XP_005269070.1:p.Ser1467= | |
| XM_005269014.1:c.4362C>G | XP_005269071.1:p.Ser1454= | |
| XM_006719493.1:c.4485C>G | XP_006719556.1:p.Ser1495= | |
| XM_006719494.1:c.4413C>G | XP_006719557.1:p.Ser1471= | |
| XM_006719496.1:c.4470C>G | XP_006719559.1:p.Ser1490= | |
| XM_011538556.1:c.4476C>G | XP_011536858.1:p.Ser1492= | |
| XM_005269007.3:c.4545C>G | XP_005269064.1:p.Ser1515= | |
| XM_005269008.3:c.4530C>G | XP_005269065.1:p.Ser1510= | |
| XM_005269009.3:c.4524C>G | XP_005269066.1:p.Ser1508= | |
| XM_005269010.3:c.4506C>G | XP_005269067.1:p.Ser1502= | |
| XM_005269011.3:c.4491C>G | XP_005269068.1:p.Ser1497= | |
| XM_005269012.3:c.4416C>G | XP_005269069.1:p.Ser1472= | |
| XM_005269013.3:c.4401C>G | XP_005269070.1:p.Ser1467= | |
| XM_005269014.3:c.4362C>G | XP_005269071.1:p.Ser1454= | |
| XM_006719493.3:c.4485C>G | XP_006719556.1:p.Ser1495= | |
| XM_006719494.3:c.4413C>G | XP_006719557.1:p.Ser1471= | |
| XM_011538556.3:c.4476C>G | XP_011536858.1:p.Ser1492= | |
| XM_017019607.2:c.4491C>G | XP_016875096.1:p.Ser1497= | |
| XM_017019608.2:c.4452C>G | XP_016875097.1:p.Ser1484= | |
| XM_017019609.2:c.4341C>G | XP_016875098.1:p.Ser1447= | |
| XM_017019610.2:c.4341C>G | XP_016875099.1:p.Ser1447= | |
| XM_017019611.2:c.4323C>G | XP_016875100.1:p.Ser1441= | |
| NM_001173463.2:c.4431C>G | NP_001166934.1:p.Ser1477= | |
| NM_001173464.2:c.4542C>G MANE Select | NP_001166935.1:p.Ser1514= | |
| NM_001173465.2:c.4383C>G | NP_001166936.1:p.Ser1461= | |
| NM_017641.4:c.4503C>G | NP_060111.2:p.Ser1501= | |
| NM_001378439.1:c.4545C>G | NP_001365368.1:p.Ser1515= | |
| NM_001378440.1:c.4530C>G | NP_001365369.1:p.Ser1510= | |
| NM_001378441.1:c.4506C>G | NP_001365370.1:p.Ser1502= |