Linked Data
ClinVar Variation Id:
237762
ClinVar RCV Id:
RCV000347538
RCV000359832
RCV000302845
RCV000395248
RCV001080668
RCV000711032
RCV002255325
RCV002267979
RCV004020756
dbSNP Id:
rs150869744
ExAC:
3:122002865 C / T
gnomAD v2:
3-122002865-C-T
gnomAD v3:
3-122284018-C-T
gnomAD v4:
3-122284018-C-T
COSMIC:
COSM3586269
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122284018C>T , CM000665.2:g.122284018C>T | GRCh38 |
| NC_000003.11:g.122002865C>T , CM000665.1:g.122002865C>T | GRCh37 |
| NC_000003.10:g.123485555C>T | NCBI36 |
| NG_009058.1:g.105336C>T | |
| NG_009058.2:g.105351C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.1833C>T | ENSP00000418685.2:p.Phe611= | |
| ENST00000498619.4:c.2094C>T | ENSP00000420194.1:p.Phe698= | |
| ENST00000638421.1:c.2064C>T | ENSP00000492190.1:p.Phe688= | |
| ENST00000639785.2:c.2064C>T MANE Select | ENSP00000491584.2:p.Phe688= | |
| ENST00000490131.5:c.2064C>T | ENSP00000418685.1:p.Phe688= | |
| ENST00000498619.2:c.2094C>T | ENSP00000420194.1:p.Phe698= | |
| NM_000388.3:c.2064C>T | NP_000379.2:p.Phe688= | |
| NM_001178065.1:c.2094C>T | NP_001171536.1:p.Phe698= | |
| XM_005247836.2:c.2064C>T | XP_005247893.1:p.Phe688= | |
| XM_005247837.2:c.1581C>T | XP_005247894.1:p.Phe527= | |
| XM_006713789.2:c.2064C>T | XP_006713852.1:p.Phe688= | |
| XM_011513237.1:c.2064C>T | XP_011511539.1:p.Phe688= | |
| XM_011513238.1:c.2064C>T | XP_011511540.1:p.Phe688= | |
| XM_011513239.1:c.1476C>T | XP_011511541.1:p.Phe492= | |
| XM_006713789.3:c.2064C>T | XP_006713852.1:p.Phe688= | |
| XM_017007324.1:c.2064C>T | XP_016862813.1:p.Phe688= | |
| XM_017007325.1:c.2064C>T | XP_016862814.1:p.Phe688= | |
| NM_000388.4:c.2064C>T MANE Select | NP_000379.3:p.Phe688= | |
| NM_001178065.2:c.2094C>T | NP_001171536.2:p.Phe698= |