Linked Data
ClinVar Variation Id:
1102738
ClinVar RCV Id:
RCV001426172
dbSNP Id:
rs149327827
ExAC:
11:61131943 C / T
gnomAD v2:
11-61131943-C-T
gnomAD v3:
11-61364471-C-T
gnomAD v4:
11-61364471-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61364471C>T , CM000673.2:g.61364471C>T | GRCh38 |
| NC_000011.9:g.61131943C>T , CM000673.1:g.61131943C>T | GRCh37 |
| NC_000011.8:g.60888519C>T | NCBI36 |
| NG_032581.1:g.7471C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451389.7:c.81C>T | ENSP00000508581.1:p.Phe27= | |
| ENST00000507563.7:c.23C>T | ENSP00000510363.1:p.Ser8Phe | |
| ENST00000540194.6:n.488C>T | ||
| ENST00000542946.2:c.81C>T | ENSP00000445792.1:p.Phe27= | |
| ENST00000543594.6:c.81C>T | ENSP00000509354.1:p.Phe27= | |
| ENST00000685597.1:c.81C>T | ENSP00000509403.1:p.Phe27= | |
| ENST00000686820.1:c.23C>T | ENSP00000508587.1:p.Ser8Phe | |
| ENST00000688279.1:c.23C>T | ENSP00000510422.1:p.Ser8Phe | |
| ENST00000688430.1:n.55-1574C>T | ||
| ENST00000689076.1:c.81C>T | ENSP00000508469.1:p.Phe27= | |
| ENST00000689882.1:c.23C>T | ENSP00000509351.1:p.Ser8Phe | |
| ENST00000691720.1:c.81C>T | ENSP00000509146.1:p.Phe27= | |
| ENST00000692219.1:c.81C>T | ENSP00000510149.1:p.Phe27= | |
| ENST00000692667.1:c.81C>T | ENSP00000510180.1:p.Phe27= | |
| ENST00000692785.1:c.81C>T | ENSP00000509310.1:p.Phe27= | |
| ENST00000693557.1:c.81C>T | ENSP00000508970.1:p.Phe27= | |
| ENST00000278826.11:c.81C>T MANE Select | ENSP00000278826.5:p.Phe27= | |
| ENST00000278826.10:c.81C>T | ENSP00000278826.5:p.Phe27= | |
| ENST00000423772.6:n.1647+156C>T | ||
| ENST00000451389.6:n.222C>T | ||
| ENST00000507563.6:n.254C>T | ||
| ENST00000534963.5:n.180C>T | ||
| ENST00000540194.5:n.255C>T | ||
| ENST00000542946.1:c.81C>T | ENSP00000445792.1:p.Phe27= | |
| ENST00000543594.5:n.280C>T | ||
| ENST00000545420.1:n.105C>T | ||
| NM_016464.4:c.81C>T | NP_057548.1:p.Phe27= | |
| NR_028473.1:n.523C>T | ||
| XM_006718585.2:c.81C>T | XP_006718648.1:p.Phe27= | |
| XM_006718586.1:c.81C>T | XP_006718649.1:p.Phe27= | |
| XM_006718588.2:c.-47+156C>T | XP_006718651.1:n.-47+156C>T | |
| XM_011545098.1:c.81C>T | XP_011543400.1:p.Phe27= | |
| XM_011545099.1:c.81C>T | XP_011543401.1:p.Phe27= | |
| XM_011545100.1:c.81C>T | XP_011543402.1:p.Phe27= | |
| XR_949964.1:n.280C>T | ||
| XR_949965.1:n.280C>T | ||
| XR_949966.1:n.280C>T | ||
| NM_001330281.1:c.-47+156C>T | NP_001317210.1:n.-47+156C>T | |
| XM_006718585.3:c.81C>T | XP_006718648.1:p.Phe27= | |
| XM_006718586.2:c.81C>T | XP_006718649.1:p.Phe27= | |
| XM_011545098.2:c.81C>T | XP_011543400.1:p.Phe27= | |
| XM_011545099.2:c.81C>T | XP_011543401.1:p.Phe27= | |
| XM_017017917.1:c.81C>T | XP_016873406.1:p.Phe27= | |
| XR_949964.3:n.280C>T | ||
| XR_949966.2:n.280C>T | ||
| NM_016464.5:c.81C>T MANE Select | NP_057548.1:p.Phe27= | |
| NM_001330281.2:c.-47+156C>T | NP_001317210.1:n.-47+156C>T | |
| NR_028473.2:n.150C>T |