Linked Data
ClinVar Variation Id:
788704
ClinVar RCV Id:
RCV000971185
dbSNP Id:
rs184180438
ExAC:
12:78562555 A / G
gnomAD v2:
12-78562555-A-G
gnomAD v3:
12-78168775-A-G
gnomAD v4:
12-78168775-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.78168775A>G , CM000674.2:g.78168775A>G | GRCh38 |
| NC_000012.11:g.78562555A>G , CM000674.1:g.78562555A>G | GRCh37 |
| NC_000012.10:g.77086686A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397909.7:c.4890A>G MANE Select | ENSP00000381007.2:p.Leu1630= | |
| ENST00000644176.1:c.3348A>G | ENSP00000495503.1:p.Leu1116= | |
| ENST00000397909.6:c.4890A>G | ENSP00000381007.2:p.Leu1630= | |
| ENST00000536525.6:c.4890A>G | ENSP00000446132.2:p.Leu1630= | |
| ENST00000550788.1:c.777A>G | ENSP00000448303.1:p.Leu259= | |
| ENST00000552895.5:c.1573A>G | ||
| NM_001024383.1:c.4890A>G | NP_001019554.1:p.Leu1630= | |
| NM_014903.5:c.4890A>G | NP_055718.4:p.Leu1630= | |
| XM_005269215.2:c.4890A>G | XP_005269272.1:p.Leu1630= | |
| XM_006719675.2:c.4821A>G | XP_006719738.1:p.Leu1607= | |
| XM_006719677.2:c.3390A>G | XP_006719740.1:p.Leu1130= | |
| XM_011538940.1:c.4848A>G | XP_011537242.1:p.Leu1616= | |
| XM_011538941.1:c.4848A>G | XP_011537243.1:p.Leu1616= | |
| XM_011538942.1:c.4719A>G | XP_011537244.1:p.Leu1573= | |
| XM_011538943.1:c.4401A>G | XP_011537245.1:p.Leu1467= | |
| XM_011538944.1:c.4359A>G | XP_011537246.1:p.Leu1453= | |
| XM_011538945.1:c.4161A>G | XP_011537247.1:p.Leu1387= | |
| XM_005269215.4:c.4890A>G | XP_005269272.1:p.Leu1630= | |
| XM_011538940.2:c.4848A>G | XP_011537242.1:p.Leu1616= | |
| XM_011538941.2:c.4848A>G | XP_011537243.1:p.Leu1616= | |
| XM_011538944.3:c.4359A>G | XP_011537246.1:p.Leu1453= | |
| XM_017020164.2:c.4890A>G | XP_016875653.1:p.Leu1630= | |
| XM_017020165.1:c.4848A>G | XP_016875654.1:p.Leu1616= | |
| XM_017020166.2:c.4719A>G | XP_016875655.1:p.Leu1573= | |
| XM_017020167.1:c.4650A>G | XP_016875656.1:p.Leu1550= | |
| XM_017020168.1:c.4401A>G | XP_016875657.1:p.Leu1467= | |
| XM_017020169.2:c.4359A>G | XP_016875658.1:p.Leu1453= | |
| XM_017020170.1:c.4359A>G | XP_016875659.1:p.Leu1453= | |
| XM_017020171.1:c.3390A>G | XP_016875660.1:p.Leu1130= | |
| XM_017020172.1:c.3348A>G | XP_016875661.1:p.Leu1116= | |
| XM_017020173.2:c.2901A>G | XP_016875662.1:p.Leu967= | |
| XM_017020174.1:c.2859A>G | XP_016875663.1:p.Leu953= | |
| XM_017020175.1:c.2901A>G | XP_016875664.1:p.Leu967= | |
| NM_001024383.2:c.4890A>G MANE Select | NP_001019554.1:p.Leu1630= | |
| NM_014903.6:c.4890A>G | NP_055718.4:p.Leu1630= |