Linked Data
ClinVar Variation Id:
13618
dbSNP Id:
rs34667348
ExAC:
16:47684830 C / T
gnomAD v2:
16-47684830-C-T
gnomAD v3:
16-47650919-C-T
gnomAD v4:
16-47650919-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47650919C>T , CM000678.2:g.47650919C>T | GRCh38 |
| NC_000016.9:g.47684830C>T , CM000678.1:g.47684830C>T | GRCh37 |
| NC_000016.8:g.46242331C>T | NCBI36 |
| NG_016598.1:g.194621C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696809.1:c.*543C>T | ENSP00000512887.1:n.*543C>T | |
| ENST00000699276.1:c.1948C>T | ENSP00000514257.1:p.Gln650Ter | |
| ENST00000323584.10:c.1969C>T MANE Select | ENSP00000313504.5:p.Gln657Ter | |
| ENST00000299167.12:c.1969C>T | ENSP00000299167.8:p.Gln657Ter | |
| ENST00000323584.9:c.1969C>T | ENSP00000313504.5:p.Gln657Ter | |
| ENST00000566044.5:c.1948C>T | ENSP00000456729.1:p.Gln650Ter | |
| ENST00000568171.1:n.90C>T | ||
| NM_000293.2:c.1969C>T | NP_000284.1:p.Gln657Ter | |
| NM_001031835.2:c.1948C>T | NP_001027005.1:p.Gln650Ter | |
| XM_005255983.3:c.1969C>T | XP_005256040.1:p.Gln657Ter | |
| XM_005255984.3:c.1948C>T | XP_005256041.1:p.Gln650Ter | |
| XM_011523106.1:c.1969C>T | XP_011521408.1:p.Gln657Ter | |
| XM_011523107.1:c.547C>T | XP_011521409.1:p.Gln183Ter | |
| NM_001363837.1:c.1969C>T | NP_001350766.1:p.Gln657Ter | |
| XM_005255983.4:c.1969C>T | XP_005256040.1:p.Gln657Ter | |
| XM_005255984.4:c.1948C>T | XP_005256041.1:p.Gln650Ter | |
| XM_017023282.1:c.856C>T | XP_016878771.1:p.Gln286Ter | |
| XM_017023283.1:c.547C>T | XP_016878772.1:p.Gln183Ter | |
| XM_017023284.1:c.547C>T | XP_016878773.1:p.Gln183Ter | |
| XR_001751913.1:n.1984C>T | ||
| NM_000293.3:c.1969C>T MANE Select | NP_000284.1:p.Gln657Ter | |
| NM_001031835.3:c.1948C>T | NP_001027005.1:p.Gln650Ter |