Linked Data
ClinVar Variation Id:
281127
dbSNP Id:
rs34667348
ExAC:
16:47684830 C / A
gnomAD v2:
16-47684830-C-A
gnomAD v3:
16-47650919-C-A
gnomAD v4:
16-47650919-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47650919C>A , CM000678.2:g.47650919C>A | GRCh38 |
| NC_000016.9:g.47684830C>A , CM000678.1:g.47684830C>A | GRCh37 |
| NC_000016.8:g.46242331C>A | NCBI36 |
| NG_016598.1:g.194621C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696809.1:c.*543C>A | ENSP00000512887.1:n.*543C>A | |
| ENST00000699276.1:c.1948C>A | ENSP00000514257.1:p.Gln650Lys | |
| ENST00000323584.10:c.1969C>A MANE Select | ENSP00000313504.5:p.Gln657Lys | |
| ENST00000299167.12:c.1969C>A | ENSP00000299167.8:p.Gln657Lys | |
| ENST00000323584.9:c.1969C>A | ENSP00000313504.5:p.Gln657Lys | |
| ENST00000566044.5:c.1948C>A | ENSP00000456729.1:p.Gln650Lys | |
| ENST00000568171.1:n.90C>A | ||
| NM_000293.2:c.1969C>A | NP_000284.1:p.Gln657Lys | |
| NM_001031835.2:c.1948C>A | NP_001027005.1:p.Gln650Lys | |
| XM_005255983.3:c.1969C>A | XP_005256040.1:p.Gln657Lys | |
| XM_005255984.3:c.1948C>A | XP_005256041.1:p.Gln650Lys | |
| XM_011523106.1:c.1969C>A | XP_011521408.1:p.Gln657Lys | |
| XM_011523107.1:c.547C>A | XP_011521409.1:p.Gln183Lys | |
| NM_001363837.1:c.1969C>A | NP_001350766.1:p.Gln657Lys | |
| XM_005255983.4:c.1969C>A | XP_005256040.1:p.Gln657Lys | |
| XM_005255984.4:c.1948C>A | XP_005256041.1:p.Gln650Lys | |
| XM_017023282.1:c.856C>A | XP_016878771.1:p.Gln286Lys | |
| XM_017023283.1:c.547C>A | XP_016878772.1:p.Gln183Lys | |
| XM_017023284.1:c.547C>A | XP_016878773.1:p.Gln183Lys | |
| XR_001751913.1:n.1984C>A | ||
| NM_000293.3:c.1969C>A MANE Select | NP_000284.1:p.Gln657Lys | |
| NM_001031835.3:c.1948C>A | NP_001027005.1:p.Gln650Lys |