Linked Data
ClinVar Variation Id:
2168106
dbSNP Id:
rs562789659
gnomAD v2:
6-116720557-C-T
gnomAD v3:
6-116399394-C-T
gnomAD v4:
6-116399394-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116399394C>T , CM000668.2:g.116399394C>T | GRCh38 |
| NC_000006.11:g.116720557C>T , CM000668.1:g.116720557C>T | GRCh37 |
| NC_000006.10:g.116827250C>T | NCBI36 |
| NG_033266.1:g.124275C>T | |
| NG_033266.3:g.150243C>T | |
| NG_033266.4:g.150224C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359564.3:c.144C>T | ENSP00000352567.3:p.Phe48= | |
| ENST00000643175.1:c.144C>T | ENSP00000495885.1:p.Phe48= | |
| ENST00000644252.3:c.144C>T MANE Select | ENSP00000494147.2:p.Phe48= | |
| ENST00000645988.1:c.144C>T | ENSP00000494202.1:p.Phe48= | |
| ENST00000646710.1:c.144C>T | ENSP00000495970.1:p.Phe48= | |
| ENST00000647244.1:c.144C>T | ENSP00000495184.1:p.Phe48= | |
| ENST00000331677.7:c.144C>T | ENSP00000332151.2:p.Phe48= | |
| ENST00000359564.2:c.144C>T | ENSP00000352567.2:p.Phe48= | |
| ENST00000430252.6:c.144C>T | ENSP00000397597.2:p.Phe48= | |
| ENST00000452085.7:c.144C>T | ENSP00000404049.2:p.Phe48= | |
| ENST00000607094.1:n.786C>T | ||
| NM_001080976.1:c.144C>T | NP_001074445.1:p.Phe48= | |
| NM_013352.2:c.144C>T | NP_037484.1:p.Phe48= | |
| XM_011535785.1:c.-444C>T | XP_011534087.1:n.-444C>T | |
| NM_001080976.2:c.144C>T | NP_001074445.1:p.Phe48= | |
| NM_001322937.1:c.144C>T | NP_001309866.1:p.Phe48= | |
| NM_001322938.1:c.144C>T | NP_001309867.1:p.Phe48= | |
| NM_001322939.1:c.201C>T | NP_001309868.1:p.Phe67= | |
| NM_001322940.1:c.-414C>T | NP_001309869.1:n.-414C>T | |
| NM_001322941.1:c.-414C>T | NP_001309870.1:n.-414C>T | |
| NM_001322943.1:c.144C>T | NP_001309872.1:p.Phe48= | |
| NM_001322944.1:c.144C>T | NP_001309873.1:p.Phe48= | |
| NM_013352.3:c.144C>T | NP_037484.1:p.Phe48= | |
| NR_136524.1:n.395C>T | ||
| XM_017010795.1:c.201C>T | XP_016866284.1:p.Phe67= | |
| XM_017010796.1:c.144C>T | XP_016866285.1:p.Phe48= | |
| XM_017010797.1:c.201C>T | XP_016866286.1:p.Phe67= | |
| NM_001080976.3:c.144C>T | NP_001074445.1:p.Phe48= | |
| NM_001322937.2:c.144C>T | NP_001309866.1:p.Phe48= | |
| NM_001322938.2:c.144C>T | NP_001309867.1:p.Phe48= | |
| NM_001322939.2:c.201C>T | NP_001309868.1:p.Phe67= | |
| NM_001322940.2:c.-414C>T | NP_001309869.1:n.-414C>T | |
| NM_001322941.2:c.-414C>T | NP_001309870.1:n.-414C>T | |
| NM_001322943.2:c.144C>T | NP_001309872.1:p.Phe48= | |
| NM_001322944.2:c.144C>T | NP_001309873.1:p.Phe48= | |
| NM_001374520.1:c.-757C>T | NP_001361449.1:n.-757C>T | |
| NM_001374521.1:c.-444C>T | NP_001361450.1:n.-444C>T | |
| NM_001374522.1:c.144C>T | NP_001361451.1:p.Phe48= | |
| NM_013352.4:c.144C>T MANE Select | NP_037484.1:p.Phe48= | |
| NR_136524.2:n.372C>T |