Linked Data
ClinVar Variation Id:
161721
ClinVar RCV Id:
RCV000149257
dbSNP Id:
rs193921009
COSMIC:
COSM1178824
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.66075145A>T , CM000667.2:g.66075145A>T | GRCh38 |
| NC_000005.9:g.65370973A>T , CM000667.1:g.65370973A>T | GRCh37 |
| NC_000005.8:g.65406729A>T | NCBI36 |
| NG_031822.1:g.153592A>T | |
| NG_031822.2:g.153592A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503913.6:c.3702-1171A>T | ENSP00000514088.1:n.3702-1171A>T | |
| ENST00000505822.2:n.1061A>T | ||
| ENST00000506030.6:c.3899A>T | ENSP00000426632.1:p.Tyr1300Phe | |
| ENST00000506744.2:n.1088A>T | ||
| ENST00000508515.2:c.3634-1171A>T | ENSP00000422015.1:n.3634-1171A>T | |
| ENST00000509946.2:n.1084A>T | ||
| ENST00000511671.6:c.3754A>T | ||
| ENST00000699000.1:c.3755A>T | ENSP00000514078.1:p.Tyr1252Phe | |
| ENST00000699001.1:c.3634-1171A>T | ENSP00000514079.1:n.3634-1171A>T | |
| ENST00000699002.1:c.3755A>T | ENSP00000514080.1:p.Tyr1252Phe | |
| ENST00000699003.1:c.3755A>T | ENSP00000514081.1:p.Tyr1252Phe | |
| ENST00000699004.1:c.3224A>T | ENSP00000514082.1:p.Tyr1075Phe | |
| ENST00000699005.1:c.3887A>T | ENSP00000514083.1:p.Tyr1296Phe | |
| ENST00000699006.1:c.3755A>T | ENSP00000514084.1:p.Tyr1252Phe | |
| ENST00000699007.1:c.3778-1171A>T | ENSP00000514085.1:n.3778-1171A>T | |
| ENST00000699008.1:c.3757-1171A>T | ENSP00000514086.1:n.3757-1171A>T | |
| ENST00000699009.1:c.3677A>T | ENSP00000514087.1:p.Tyr1226Phe | |
| ENST00000699010.1:c.3622-1171A>T | ENSP00000514089.1:n.3622-1171A>T | |
| ENST00000699011.1:c.*3511A>T | ENSP00000514090.1:n.*3511A>T | |
| ENST00000699012.1:c.*2369-1171A>T | ENSP00000514091.1:n.*2369-1171A>T | |
| ENST00000699013.1:c.3240A>T | ||
| ENST00000699014.1:n.1074A>T | ||
| ENST00000284037.10:c.3878A>T MANE Select | ENSP00000284037.4:p.Tyr1293Phe | |
| ENST00000284037.9:c.3878A>T | ENSP00000284037.4:p.Tyr1293Phe | |
| ENST00000380935.5:c.3634-1171A>T | ENSP00000370322.1:n.3634-1171A>T | |
| ENST00000380938.6:c.3755A>T | ENSP00000370325.2:p.Tyr1252Phe | |
| ENST00000380943.6:c.3755A>T | ENSP00000370330.2:p.Tyr1252Phe | |
| ENST00000416865.6:c.1472A>T | ENSP00000397833.2:p.Tyr491Phe | |
| ENST00000503913.5:n.66-1171A>T | ||
| ENST00000506030.5:c.3899A>T | ENSP00000426632.1:p.Tyr1300Phe | |
| ENST00000508515.1:c.3634-1171A>T | ENSP00000422015.1:n.3634-1171A>T | |
| ENST00000511297.5:c.3743A>T | ENSP00000422766.1:p.Tyr1248Phe | |
| ENST00000512354.1:c.389A>T | ENSP00000423959.1:p.Tyr130Phe | |
| NM_001006600.2:c.3634-1171A>T | NP_001006600.1:n.3634-1171A>T | |
| NM_001253697.1:c.3878A>T | NP_001240626.1:p.Tyr1293Phe | |
| NM_001253698.1:c.3755A>T | NP_001240627.1:p.Tyr1252Phe | |
| NM_001253699.1:c.3899A>T | NP_001240628.1:p.Tyr1300Phe | |
| NM_001253701.1:c.3743A>T | NP_001240630.1:p.Tyr1248Phe | |
| NM_018695.3:c.3755A>T | NP_061165.1:p.Tyr1252Phe | |
| XM_005248554.1:c.4022A>T | XP_005248611.1:p.Tyr1341Phe | |
| XM_005248555.2:c.4010A>T | XP_005248612.1:p.Tyr1337Phe | |
| XM_011543514.1:c.4022A>T | XP_011541816.1:p.Tyr1341Phe | |
| XM_005248554.3:c.4022A>T | XP_005248611.1:p.Tyr1341Phe | |
| XM_005248555.4:c.4010A>T | XP_005248612.1:p.Tyr1337Phe | |
| XM_017009635.2:c.4022A>T | XP_016865124.1:p.Tyr1341Phe | |
| XM_017009636.2:c.3887A>T | XP_016865125.1:p.Tyr1296Phe | |
| XM_017009637.2:c.3622-1171A>T | XP_016865126.1:n.3622-1171A>T | |
| NM_001253697.2:c.3878A>T MANE Select | NP_001240626.1:p.Tyr1293Phe | |
| NM_001253698.2:c.3755A>T | NP_001240627.1:p.Tyr1252Phe | |
| NM_001253699.2:c.3899A>T | NP_001240628.1:p.Tyr1300Phe | |
| NM_001253701.2:c.3743A>T | NP_001240630.1:p.Tyr1248Phe | |
| NM_018695.4:c.3755A>T | NP_061165.1:p.Tyr1252Phe | |
| NM_001006600.3:c.3634-1171A>T | NP_001006600.1:n.3634-1171A>T |