Linked Data
ClinVar Variation Id:
218948
dbSNP Id:
rs864309712
gnomAD v4:
16-27749634-C-T
PubMed:
PMID:26714646
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27749634C>T , CM000678.2:g.27749634C>T | GRCh38 |
| NC_000016.9:g.27760955C>T , CM000678.1:g.27760955C>T | GRCh37 |
| NC_000016.8:g.27668456C>T | NCBI36 |
| NG_046731.1:g.204488C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261588.10:c.2674C>T MANE Select | ENSP00000261588.4:p.Gln892Ter | |
| ENST00000261588.9:c.2674C>T | ENSP00000261588.4:p.Gln892Ter | |
| ENST00000261588.8:c.2674C>T | ENSP00000261588.4:p.Gln892Ter | |
| ENST00000573850.1:n.779C>T | ||
| NM_015202.2:c.2674C>T | NP_056017.2:p.Gln892Ter | |
| XM_005255201.2:c.2857C>T | XP_005255258.1:p.Gln953Ter | |
| XM_005255202.2:c.2803C>T | XP_005255259.1:p.Gln935Ter | |
| XM_005255203.2:c.2728C>T | XP_005255260.1:p.Gln910Ter | |
| XM_005255206.2:c.2857C>T | XP_005255263.1:p.Gln953Ter | |
| XM_005255207.2:c.1552C>T | XP_005255264.1:p.Gln518Ter | |
| XM_005255208.2:c.1453C>T | XP_005255265.1:p.Gln485Ter | |
| XM_006721025.2:c.2596C>T | XP_006721088.1:p.Gln866Ter | |
| XM_011545773.1:c.2779C>T | XP_011544075.1:p.Gln927Ter | |
| XM_011545774.1:c.2779C>T | XP_011544076.1:p.Gln927Ter | |
| XM_011545775.1:c.2737C>T | XP_011544077.1:p.Gln913Ter | |
| XM_011545776.1:c.2725C>T | XP_011544078.1:p.Gln909Ter | |
| XM_011545777.1:c.778C>T | XP_011544079.1:p.Gln260Ter | |
| NM_015202.3:c.2674C>T | NP_056017.3:p.Gln892Ter | |
| XM_005255201.3:c.2857C>T | XP_005255258.1:p.Gln953Ter | |
| XM_005255202.3:c.2803C>T | XP_005255259.1:p.Gln935Ter | |
| XM_005255203.3:c.2728C>T | XP_005255260.1:p.Gln910Ter | |
| XM_005255206.3:c.2857C>T | XP_005255263.1:p.Gln953Ter | |
| XM_006721025.3:c.2596C>T | XP_006721088.1:p.Gln866Ter | |
| XM_011545773.2:c.2779C>T | XP_011544075.1:p.Gln927Ter | |
| XM_011545774.2:c.2779C>T | XP_011544076.1:p.Gln927Ter | |
| XM_011545775.2:c.2737C>T | XP_011544077.1:p.Gln913Ter | |
| XM_011545776.2:c.2725C>T | XP_011544078.1:p.Gln909Ter | |
| XM_011545777.2:c.778C>T | XP_011544079.1:p.Gln260Ter | |
| XM_017023085.1:c.2608C>T | XP_016878574.1:p.Gln870Ter | |
| XM_017023086.1:c.2596C>T | XP_016878575.1:p.Gln866Ter | |
| XM_017023087.1:c.2542C>T | XP_016878576.1:p.Gln848Ter | |
| XM_017023088.1:c.1552C>T | XP_016878577.1:p.Gln518Ter | |
| XM_024450216.1:c.2671C>T | XP_024305984.1:p.Gln891Ter | |
| XM_024450217.1:c.2191C>T | XP_024305985.1:p.Gln731Ter | |
| NM_015202.4:c.2674C>T | NP_056017.3:p.Gln892Ter | |
| NM_015202.5:c.2674C>T MANE Select | NP_056017.4:p.Gln892Ter |