Linked Data
ClinVar Variation Id:
310833
dbSNP Id:
rs752078094
ExAC:
12:995228 A / G
gnomAD v2:
12-995228-A-G
gnomAD v3:
12-886062-A-G
gnomAD v4:
12-886062-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.886062A>G , CM000674.2:g.886062A>G | GRCh38 |
| NC_000012.11:g.995228A>G , CM000674.1:g.995228A>G | GRCh37 |
| NC_000012.10:g.865489A>G | NCBI36 |
| NG_007984.2:g.138004A>G | |
| NG_007984.3:g.138004A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.5258A>G MANE Select | ENSP00000313059.6:p.Lys1753Arg | |
| ENST00000340908.9:c.6014A>G MANE Plus Clinical | ENSP00000341292.5:p.Lys2005Arg | |
| ENST00000675631.1:c.4037A>G | ENSP00000502415.1:p.Lys1346Arg | |
| ENST00000676347.1:c.2705A>G | ENSP00000501875.1:p.Lys902Arg | |
| ENST00000315939.10:c.5258A>G | ENSP00000313059.6:p.Lys1753Arg | |
| ENST00000340908.8:c.6014A>G | ENSP00000341292.5:p.Lys2005Arg | |
| ENST00000530271.6:c.6497A>G | ENSP00000433548.3:p.Lys2166Arg | |
| ENST00000535572.5:c.4517A>G | ENSP00000441972.1:p.Lys1506Arg | |
| ENST00000537687.5:c.6038A>G | ENSP00000444465.1:p.Lys2013Arg | |
| NM_001184985.1:c.6038A>G | NP_001171914.1:p.Lys2013Arg | |
| NM_014823.2:c.4517A>G | NP_055638.2:p.Lys1506Arg | |
| NM_018979.3:c.5258A>G | NP_061852.3:p.Lys1753Arg | |
| NM_213655.4:c.6014A>G | NP_998820.3:p.Lys2005Arg | |
| XM_006719003.1:c.5255A>G | XP_006719066.1:p.Lys1752Arg | |
| XM_011520997.1:c.6497A>G | XP_011519299.1:p.Lys2166Arg | |
| XM_011520998.1:c.6494A>G | XP_011519300.1:p.Lys2165Arg | |
| XM_011520999.1:c.6497A>G | XP_011519301.1:p.Lys2166Arg | |
| XM_011521000.1:c.6497A>G | XP_011519302.1:p.Lys2166Arg | |
| XM_011521001.1:c.6218A>G | XP_011519303.1:p.Lys2073Arg | |
| XM_011521002.1:c.6035A>G | XP_011519304.1:p.Lys2012Arg | |
| XM_011521003.1:c.5759A>G | XP_011519305.1:p.Lys1920Arg | |
| XM_011521004.1:c.5756A>G | XP_011519306.1:p.Lys1919Arg | |
| XM_011521005.1:c.5276A>G | XP_011519307.1:p.Lys1759Arg | |
| XM_011521006.1:c.5174A>G | XP_011519308.1:p.Lys1725Arg | |
| XM_011521007.1:c.5171A>G | XP_011519309.1:p.Lys1724Arg | |
| XM_011521008.1:c.4436A>G | XP_011519310.1:p.Lys1479Arg | |
| XM_011521009.1:c.4433A>G | XP_011519311.1:p.Lys1478Arg | |
| XM_006719003.2:c.5255A>G | XP_006719066.1:p.Lys1752Arg | |
| XM_011520997.3:c.6497A>G | XP_011519299.1:p.Lys2166Arg | |
| XM_011520998.2:c.6494A>G | XP_011519300.1:p.Lys2165Arg | |
| XM_011520999.2:c.6497A>G | XP_011519301.1:p.Lys2166Arg | |
| XM_011521000.2:c.6497A>G | XP_011519302.1:p.Lys2166Arg | |
| XM_011521001.2:c.6218A>G | XP_011519303.1:p.Lys2073Arg | |
| XM_011521002.2:c.6035A>G | XP_011519304.1:p.Lys2012Arg | |
| XM_011521003.2:c.5759A>G | XP_011519305.1:p.Lys1920Arg | |
| XM_011521004.2:c.5756A>G | XP_011519306.1:p.Lys1919Arg | |
| XM_011521005.2:c.5276A>G | XP_011519307.1:p.Lys1759Arg | |
| XM_011521006.2:c.5174A>G | XP_011519308.1:p.Lys1725Arg | |
| XM_011521007.2:c.5171A>G | XP_011519309.1:p.Lys1724Arg | |
| XM_011521008.2:c.4436A>G | XP_011519310.1:p.Lys1479Arg | |
| XM_011521009.2:c.4433A>G | XP_011519311.1:p.Lys1478Arg | |
| XM_017019834.1:c.4796A>G | XP_016875323.1:p.Lys1599Arg | |
| XM_017019835.1:c.4715A>G | XP_016875324.1:p.Lys1572Arg | |
| XM_017019836.1:c.4712A>G | XP_016875325.1:p.Lys1571Arg | |
| XM_017019837.1:c.4520A>G | XP_016875326.1:p.Lys1507Arg | |
| XM_017019838.1:c.4517A>G | XP_016875327.1:p.Lys1506Arg | |
| XM_017019839.1:c.4436A>G | XP_016875328.1:p.Lys1479Arg | |
| NM_018979.4:c.5258A>G MANE Select | NP_061852.3:p.Lys1753Arg | |
| NM_014823.3:c.4517A>G | NP_055638.2:p.Lys1506Arg | |
| NM_001184985.2:c.6038A>G | NP_001171914.1:p.Lys2013Arg | |
| NM_213655.5:c.6014A>G MANE Plus Clinical | NP_998820.3:p.Lys2005Arg |