Linked Data
ClinVar Variation Id:
308546
ClinVar RCV Id:
RCV000383091
dbSNP Id:
rs2271477
ExAC:
12:39695445 G / A
gnomAD v2:
12-39695445-G-A
gnomAD v3:
12-39301643-G-A
gnomAD v4:
12-39301643-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.39301643G>A , CM000674.2:g.39301643G>A | GRCh38 |
| NC_000012.11:g.39695445G>A , CM000674.1:g.39695445G>A | GRCh37 |
| NC_000012.10:g.37981712G>A | NCBI36 |
| NG_017067.1:g.146748C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361418.10:c.4768C>T MANE Select | ENSP00000354878.5:p.Leu1590= | |
| ENST00000636569.1:c.4705C>T | ENSP00000490369.1:p.Leu1569= | |
| ENST00000361418.9:c.4768C>T | ENSP00000354878.5:p.Leu1590= | |
| ENST00000361961.7:c.4729C>T | ENSP00000354851.3:p.Leu1577= | |
| ENST00000541463.6:c.4609C>T | ENSP00000438075.2:p.Leu1537= | |
| ENST00000544797.6:c.4657C>T | ENSP00000445606.2:p.Leu1553= | |
| ENST00000547733.1:n.2082C>T | ||
| ENST00000551264.5:c.1711C>T | ENSP00000448792.1:p.Leu571= | |
| ENST00000552961.5:c.2670C>T | ||
| NM_001173463.1:c.4657C>T | NP_001166934.1:p.Leu1553= | |
| NM_001173464.1:c.4768C>T | NP_001166935.1:p.Leu1590= | |
| NM_001173465.1:c.4609C>T | NP_001166936.1:p.Leu1537= | |
| NM_017641.3:c.4729C>T | NP_060111.2:p.Leu1577= | |
| XM_005269007.1:c.4771C>T | XP_005269064.1:p.Leu1591= | |
| XM_005269008.1:c.4756C>T | XP_005269065.1:p.Leu1586= | |
| XM_005269009.1:c.4750C>T | XP_005269066.1:p.Leu1584= | |
| XM_005269010.1:c.4732C>T | XP_005269067.1:p.Leu1578= | |
| XM_005269011.1:c.4717C>T | XP_005269068.1:p.Leu1573= | |
| XM_005269012.1:c.4642C>T | XP_005269069.1:p.Leu1548= | |
| XM_005269013.1:c.4627C>T | XP_005269070.1:p.Leu1543= | |
| XM_005269014.1:c.4588C>T | XP_005269071.1:p.Leu1530= | |
| XM_006719493.1:c.4711C>T | XP_006719556.1:p.Leu1571= | |
| XM_006719494.1:c.4639C>T | XP_006719557.1:p.Leu1547= | |
| XM_006719496.1:c.4696C>T | XP_006719559.1:p.Leu1566= | |
| XM_011538556.1:c.4702C>T | XP_011536858.1:p.Leu1568= | |
| XM_005269007.3:c.4771C>T | XP_005269064.1:p.Leu1591= | |
| XM_005269008.3:c.4756C>T | XP_005269065.1:p.Leu1586= | |
| XM_005269009.3:c.4750C>T | XP_005269066.1:p.Leu1584= | |
| XM_005269010.3:c.4732C>T | XP_005269067.1:p.Leu1578= | |
| XM_005269011.3:c.4717C>T | XP_005269068.1:p.Leu1573= | |
| XM_005269012.3:c.4642C>T | XP_005269069.1:p.Leu1548= | |
| XM_005269013.3:c.4627C>T | XP_005269070.1:p.Leu1543= | |
| XM_005269014.3:c.4588C>T | XP_005269071.1:p.Leu1530= | |
| XM_006719493.3:c.4711C>T | XP_006719556.1:p.Leu1571= | |
| XM_006719494.3:c.4639C>T | XP_006719557.1:p.Leu1547= | |
| XM_011538556.3:c.4702C>T | XP_011536858.1:p.Leu1568= | |
| XM_017019607.2:c.4717C>T | XP_016875096.1:p.Leu1573= | |
| XM_017019608.2:c.4678C>T | XP_016875097.1:p.Leu1560= | |
| XM_017019609.2:c.4567C>T | XP_016875098.1:p.Leu1523= | |
| XM_017019610.2:c.4567C>T | XP_016875099.1:p.Leu1523= | |
| XM_017019611.2:c.4549C>T | XP_016875100.1:p.Leu1517= | |
| NM_001173463.2:c.4657C>T | NP_001166934.1:p.Leu1553= | |
| NM_001173464.2:c.4768C>T MANE Select | NP_001166935.1:p.Leu1590= | |
| NM_001173465.2:c.4609C>T | NP_001166936.1:p.Leu1537= | |
| NM_017641.4:c.4729C>T | NP_060111.2:p.Leu1577= | |
| NM_001378439.1:c.4771C>T | NP_001365368.1:p.Leu1591= | |
| NM_001378440.1:c.4756C>T | NP_001365369.1:p.Leu1586= | |
| NM_001378441.1:c.4732C>T | NP_001365370.1:p.Leu1578= |