Linked Data
ClinVar Variation Id:
565781
dbSNP Id:
rs759644657
ExAC:
16:84209788 C / A
gnomAD v2:
16-84209788-C-A
gnomAD v3:
16-84176182-C-A
gnomAD v4:
16-84176182-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84176182C>A , CM000678.2:g.84176182C>A | GRCh38 |
| NC_000016.9:g.84209788C>A , CM000678.1:g.84209788C>A | GRCh37 |
| NC_000016.8:g.82767289C>A | NCBI36 |
| NG_021174.1:g.35924C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378553.10:c.1948C>A MANE Select | ENSP00000367815.5:p.Leu650Ile | |
| ENST00000378553.9:c.1948C>A | ENSP00000367815.5:p.Leu650Ile | |
| ENST00000562024.1:n.420C>A | ||
| ENST00000563818.5:n.1625C>A | ||
| ENST00000564928.1:c.42C>A | ||
| ENST00000569735.1:c.250C>A | ENSP00000454960.1:p.Leu84Ile | |
| ENST00000570298.5:n.4401C>A | ||
| ENST00000623406.1:n.955C>A | ||
| NM_178452.4:c.1948C>A | NP_848547.4:p.Leu650Ile | |
| XM_006721129.1:c.1954C>A | XP_006721192.1:p.Leu652Ile | |
| XM_011522850.1:c.2230C>A | XP_011521152.1:p.Leu744Ile | |
| XM_011522851.1:c.2224C>A | XP_011521153.1:p.Leu742Ile | |
| XM_011522852.1:c.2182C>A | XP_011521154.1:p.Leu728Ile | |
| XM_011522853.1:c.1996C>A | XP_011521155.1:p.Leu666Ile | |
| XM_011522854.1:c.2002C>A | XP_011521156.1:p.Leu668Ile | |
| XM_011522855.1:c.1996C>A | XP_011521157.1:p.Leu666Ile | |
| XM_011522856.1:c.1969C>A | XP_011521158.1:p.Leu657Ile | |
| XM_011522859.1:c.1474C>A | XP_011521161.1:p.Leu492Ile | |
| XM_011522860.1:c.1240C>A | XP_011521162.1:p.Leu414Ile | |
| NM_001318756.1:c.1240C>A | NP_001305685.1:p.Leu414Ile | |
| NM_178452.5:c.1948C>A | NP_848547.4:p.Leu650Ile | |
| XM_006721129.3:c.1954C>A | XP_006721192.1:p.Leu652Ile | |
| XM_011522853.3:c.1996C>A | XP_011521155.1:p.Leu666Ile | |
| XM_011522854.3:c.2002C>A | XP_011521156.1:p.Leu668Ile | |
| XM_011522855.3:c.1996C>A | XP_011521157.1:p.Leu666Ile | |
| XM_017022918.2:c.1948C>A | XP_016878407.1:p.Leu650Ile | |
| XM_017022919.1:c.1735C>A | XP_016878408.1:p.Leu579Ile | |
| XM_017022920.2:c.1240C>A | XP_016878409.1:p.Leu414Ile | |
| XM_017022921.2:c.1192C>A | XP_016878410.1:p.Leu398Ile | |
| XM_017022922.2:c.1192C>A | XP_016878411.1:p.Leu398Ile | |
| XR_001751829.2:n.2659C>A | ||
| XR_001751830.2:n.2653C>A | ||
| XR_001751831.2:n.2605C>A | ||
| XR_001751832.1:n.5207C>A | ||
| NM_178452.6:c.1948C>A MANE Select | NP_848547.4:p.Leu650Ile |