Linked Data
ClinVar Variation Id:
163088
dbSNP Id:
rs2288021
ExAC:
16:84209815 C / G
gnomAD v2:
16-84209815-C-G
gnomAD v3:
16-84176209-C-G
gnomAD v4:
16-84176209-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84176209C>G , CM000678.2:g.84176209C>G | GRCh38 |
| NC_000016.9:g.84209815C>G , CM000678.1:g.84209815C>G | GRCh37 |
| NC_000016.8:g.82767316C>G | NCBI36 |
| NG_021174.1:g.35951C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378553.10:c.1975C>G MANE Select | ENSP00000367815.5:p.Leu659Val | |
| ENST00000378553.9:c.1975C>G | ENSP00000367815.5:p.Leu659Val | |
| ENST00000562024.1:n.447C>G | ||
| ENST00000563818.5:n.1652C>G | ||
| ENST00000564928.1:c.69C>G | ||
| ENST00000569735.1:c.277C>G | ENSP00000454960.1:p.Leu93Val | |
| ENST00000570298.5:n.4428C>G | ||
| ENST00000623406.1:n.982C>G | ||
| NM_178452.4:c.1975C>G | NP_848547.4:p.Leu659Val | |
| XM_006721129.1:c.1981C>G | XP_006721192.1:p.Leu661Val | |
| XM_011522850.1:c.2257C>G | XP_011521152.1:p.Leu753Val | |
| XM_011522851.1:c.2251C>G | XP_011521153.1:p.Leu751Val | |
| XM_011522852.1:c.2209C>G | XP_011521154.1:p.Leu737Val | |
| XM_011522853.1:c.2023C>G | XP_011521155.1:p.Leu675Val | |
| XM_011522854.1:c.2029C>G | XP_011521156.1:p.Leu677Val | |
| XM_011522855.1:c.2023C>G | XP_011521157.1:p.Leu675Val | |
| XM_011522856.1:c.1996C>G | XP_011521158.1:p.Leu666Val | |
| XM_011522859.1:c.1501C>G | XP_011521161.1:p.Leu501Val | |
| XM_011522860.1:c.1267C>G | XP_011521162.1:p.Leu423Val | |
| NM_001318756.1:c.1267C>G | NP_001305685.1:p.Leu423Val | |
| NM_178452.5:c.1975C>G | NP_848547.4:p.Leu659Val | |
| XM_006721129.3:c.1981C>G | XP_006721192.1:p.Leu661Val | |
| XM_011522853.3:c.2023C>G | XP_011521155.1:p.Leu675Val | |
| XM_011522854.3:c.2029C>G | XP_011521156.1:p.Leu677Val | |
| XM_011522855.3:c.2023C>G | XP_011521157.1:p.Leu675Val | |
| XM_017022918.2:c.1975C>G | XP_016878407.1:p.Leu659Val | |
| XM_017022919.1:c.1762C>G | XP_016878408.1:p.Leu588Val | |
| XM_017022920.2:c.1267C>G | XP_016878409.1:p.Leu423Val | |
| XM_017022921.2:c.1219C>G | XP_016878410.1:p.Leu407Val | |
| XM_017022922.2:c.1219C>G | XP_016878411.1:p.Leu407Val | |
| XR_001751829.2:n.2686C>G | ||
| XR_001751830.2:n.2680C>G | ||
| XR_001751831.2:n.2632C>G | ||
| XR_001751832.1:n.5234C>G | ||
| NM_178452.6:c.1975C>G MANE Select | NP_848547.4:p.Leu659Val |