Linked Data
ClinVar Variation Id:
645436
ClinVar RCV Id:
RCV000799508
dbSNP Id:
rs767086382
ExAC:
13:51504882 A / G
gnomAD v2:
13-51504882-A-G
gnomAD v3:
13-50930746-A-G
gnomAD v4:
13-50930746-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50930746A>G , CM000675.2:g.50930746A>G | GRCh38 |
| NC_000013.10:g.51504882A>G , CM000675.1:g.51504882A>G | GRCh37 |
| NC_000013.9:g.50402883A>G | NCBI36 |
| NG_009055.1:g.25991A>G , LRG_279:g.25991A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336617.8:c.308A>G MANE Select | ENSP00000337623.2:p.Lys103Arg | |
| ENST00000422660.6:c.308A>G | ENSP00000389877.1:p.Lys103Arg | |
| ENST00000459681.3:n.106A>G | ||
| ENST00000495244.7:n.319A>G | ||
| ENST00000611510.5:c.218A>G | ENSP00000481236.3:p.Lys73Arg | |
| ENST00000616907.2:c.308A>G | ENSP00000482701.2:p.Lys103Arg | |
| ENST00000637648.2:c.218A>G | ENSP00000490077.2:p.Lys73Arg | |
| ENST00000642207.1:c.162A>G | ||
| ENST00000642454.1:c.218A>G | ENSP00000494221.1:p.Lys73Arg | |
| ENST00000642721.1:c.308A>G | ENSP00000495650.1:p.Lys103Arg | |
| ENST00000642995.1:c.200A>G | ENSP00000493499.1:p.Lys67Arg | |
| ENST00000643159.1:c.218A>G | ENSP00000495587.1:p.Lys73Arg | |
| ENST00000643215.1:c.178A>G | ||
| ENST00000643462.1:c.*123A>G | ENSP00000496130.1:n.*123A>G | |
| ENST00000643682.1:c.308A>G | ENSP00000493655.1:p.Lys103Arg | |
| ENST00000643774.1:c.272A>G | ENSP00000495482.1:p.Lys91Arg | |
| ENST00000644034.1:c.65-17241A>G | ENSP00000495456.1:n.65-17241A>G | |
| ENST00000644183.1:c.211+1164A>G | ENSP00000495657.1:n.211+1164A>G | |
| ENST00000644297.1:c.*175A>G | ENSP00000495519.1:n.*175A>G | |
| ENST00000644420.1:n.334A>G | ||
| ENST00000644425.1:c.259A>G | ||
| ENST00000644518.1:c.*175A>G | ENSP00000495793.1:n.*175A>G | |
| ENST00000645188.1:c.308A>G | ENSP00000496224.1:p.Lys103Arg | |
| ENST00000645333.1:n.240A>G | ||
| ENST00000645370.1:c.143A>G | ENSP00000494019.1:p.Lys48Arg | |
| ENST00000645549.1:n.572A>G | ||
| ENST00000645618.1:c.218A>G | ENSP00000495429.1:p.Lys73Arg | |
| ENST00000645712.1:n.341A>G | ||
| ENST00000645955.1:c.308A>G | ENSP00000495755.1:p.Lys103Arg | |
| ENST00000645990.1:c.308A>G | ENSP00000496571.1:p.Lys103Arg | |
| ENST00000646092.1:c.272A>G | ENSP00000496293.1:p.Lys91Arg | |
| ENST00000646279.1:n.605A>G | ||
| ENST00000646709.1:c.218A>G | ENSP00000495278.1:p.Lys73Arg | |
| ENST00000646731.1:c.308A>G | ENSP00000493828.1:p.Lys103Arg | |
| ENST00000646960.1:c.308A>G | ENSP00000496481.1:p.Lys103Arg | |
| ENST00000647387.1:c.218A>G | ENSP00000495487.1:p.Lys73Arg | |
| ENST00000336617.7:c.308A>G | ENSP00000337623.2:p.Lys103Arg | |
| ENST00000422660.5:c.308A>G | ENSP00000389877.1:p.Lys103Arg | |
| ENST00000459681.2:n.106A>G | ||
| ENST00000495244.6:n.319A>G | ||
| ENST00000611510.4:c.308A>G | ENSP00000481236.2:p.Lys103Arg | |
| NM_001142279.2:c.308A>G , LRG_279t1:c.308A>G | NP_001135751.1:p.Lys103Arg | |
| NM_024570.3:c.308A>G , LRG_279t2:c.308A>G | NP_078846.2:p.Lys103Arg | |
| XM_005266524.2:c.308A>G | XP_005266581.1:p.Lys103Arg | |
| XM_005266525.2:c.308A>G | XP_005266582.1:p.Lys103Arg | |
| XM_006719867.2:c.290A>G | XP_006719930.1:p.Lys97Arg | |
| XM_011535229.1:c.308A>G | XP_011533531.1:p.Lys103Arg | |
| XM_011535230.1:c.308A>G | XP_011533532.1:p.Lys103Arg | |
| XM_011535231.1:c.308A>G | XP_011533533.1:p.Lys103Arg | |
| XM_011535232.1:c.146A>G | XP_011533534.1:p.Lys49Arg | |
| XM_011535233.1:c.-306A>G | XP_011533535.1:n.-306A>G | |
| XM_011535234.1:c.308A>G | XP_011533536.1:p.Lys103Arg | |
| XM_006719867.4:c.290A>G | XP_006719930.1:p.Lys97Arg | |
| XM_011535230.2:c.308A>G | XP_011533532.1:p.Lys103Arg | |
| XM_011535231.2:c.308A>G | XP_011533533.1:p.Lys103Arg | |
| XM_011535233.2:c.-306A>G | XP_011533535.1:n.-306A>G | |
| XM_017020747.1:c.308A>G | XP_016876236.1:p.Lys103Arg | |
| NM_024570.4:c.308A>G MANE Select | NP_078846.2:p.Lys103Arg |