Linked Data
ClinVar Variation Id:
1682627
dbSNP Id:
rs557154026
gnomAD v3:
17-77482291-G-T
gnomAD v4:
17-77482291-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77482291G>T , CM000679.2:g.77482291G>T | GRCh38 |
| NC_000017.10:g.75478373G>T , CM000679.1:g.75478373G>T | GRCh37 |
| NC_000017.9:g.72989968G>T | NCBI36 |
| NG_011683.1:g.205882G>T | |
| NG_011683.2:g.205882G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329047.13:c.815G>T MANE Plus Clinical | ENSP00000329161.8:p.Arg272Leu | |
| ENST00000427177.6:c.869G>T MANE Select | ENSP00000391249.1:p.Arg290Leu | |
| ENST00000588690.6:c.377G>T | ENSP00000468668.1:p.Arg126Leu | |
| ENST00000589250.6:n.173G>T | ||
| ENST00000590294.6:n.918G>T | ||
| ENST00000592481.6:c.116G>T | ENSP00000502589.1:p.Arg39Leu | |
| ENST00000329047.12:c.815G>T | ENSP00000329161.8:p.Arg272Leu | |
| ENST00000423034.6:c.848G>T | ENSP00000405877.1:p.Arg283Leu | |
| ENST00000427177.5:c.869G>T | ENSP00000391249.1:p.Arg290Leu | |
| ENST00000427180.5:c.533G>T | ENSP00000415624.1:p.Arg178Leu | |
| ENST00000427674.6:c.377G>T | ENSP00000403194.1:p.Arg126Leu | |
| ENST00000431235.6:c.377G>T | ENSP00000406987.2:p.Arg126Leu | |
| ENST00000449803.6:c.377G>T | ENSP00000400181.2:p.Arg126Leu | |
| ENST00000541152.6:c.116G>T | ENSP00000438089.2:p.Arg39Leu | |
| ENST00000585638.1:c.116G>T | ENSP00000466115.1:p.Arg39Leu | |
| ENST00000585929.5:c.116G>T | ENSP00000467780.1:p.Arg39Leu | |
| ENST00000585930.5:c.197G>T | ENSP00000468120.1:p.Arg66Leu | |
| ENST00000586128.5:c.116G>T | ENSP00000467792.1:p.Arg39Leu | |
| ENST00000586433.5:c.116G>T | ENSP00000468110.1:p.Arg39Leu | |
| ENST00000586521.5:c.116G>T | ENSP00000466170.1:p.Arg39Leu | |
| ENST00000588575.1:c.196-5191G>T | ENSP00000468090.1:n.196-5191G>T | |
| ENST00000588690.5:c.377G>T | ENSP00000468668.1:p.Arg126Leu | |
| ENST00000588958.6:c.116G>T | ENSP00000464832.1:p.Arg39Leu | |
| ENST00000589920.5:c.116G>T | ENSP00000466532.1:p.Arg39Leu | |
| ENST00000590059.5:c.320G>T | ENSP00000466164.1:p.Arg107Leu | |
| ENST00000590294.5:c.815G>T | ENSP00000465464.1:p.Arg272Leu | |
| ENST00000590917.5:c.116G>T | ENSP00000467619.1:p.Arg39Leu | |
| ENST00000590938.5:c.116G>T | ENSP00000466201.1:p.Arg39Leu | |
| ENST00000591020.5:c.116G>T | ENSP00000467908.1:p.Arg39Leu | |
| ENST00000591088.5:c.116G>T | ENSP00000466247.1:p.Arg39Leu | |
| ENST00000591198.5:c.812G>T | ENSP00000468406.1:p.Arg271Leu | |
| ENST00000591472.6:c.116G>T | ENSP00000468410.2:p.Arg39Leu | |
| ENST00000591704.5:c.116G>T | ENSP00000465415.1:p.Arg39Leu | |
| ENST00000592420.1:c.296G>T | ENSP00000467051.1:p.Arg99Leu | |
| ENST00000592481.5:n.433G>T | ||
| ENST00000592951.5:c.116G>T | ENSP00000466648.1:p.Arg39Leu | |
| ENST00000593189.6:c.116G>T | ENSP00000465904.1:p.Arg39Leu | |
| NM_001113491.1:c.869G>T | NP_001106963.1:p.Arg290Leu | |
| NM_001113492.1:c.377G>T | NP_001106964.1:p.Arg126Leu | |
| NM_001113493.1:c.848G>T | NP_001106965.1:p.Arg283Leu | |
| NM_001113494.1:c.377G>T | NP_001106966.1:p.Arg126Leu | |
| NM_001113495.1:c.533G>T | NP_001106967.1:p.Arg178Leu | |
| NM_001113496.1:c.116G>T | NP_001106968.1:p.Arg39Leu | |
| NM_001293695.1:c.812G>T | NP_001280624.1:p.Arg271Leu | |
| NM_001293696.1:c.197G>T | NP_001280625.1:p.Arg66Leu | |
| NM_001293697.1:c.116G>T | NP_001280626.1:p.Arg39Leu | |
| NM_001293698.1:c.116G>T | NP_001280627.1:p.Arg39Leu | |
| NM_006640.4:c.815G>T | NP_006631.2:p.Arg272Leu | |
| XM_005256962.1:c.116G>T | XP_005257019.1:p.Arg39Leu | |
| XM_006721643.2:c.377G>T | XP_006721706.1:p.Arg126Leu | |
| XM_006721644.1:c.116G>T | XP_006721707.1:p.Arg39Leu | |
| XM_011524204.1:c.962G>T | XP_011522506.1:p.Arg321Leu | |
| XM_011524205.1:c.959G>T | XP_011522507.1:p.Arg320Leu | |
| XM_011524206.1:c.824G>T | XP_011522508.1:p.Arg275Leu | |
| XM_011524207.1:c.377G>T | XP_011522509.1:p.Arg126Leu | |
| XM_011524208.1:c.116G>T | XP_011522510.1:p.Arg39Leu | |
| XM_011524209.1:c.116G>T | XP_011522511.1:p.Arg39Leu | |
| NM_001113491.2:c.869G>T MANE Select | NP_001106963.1:p.Arg290Leu | |
| NM_001113493.2:c.848G>T | NP_001106965.1:p.Arg283Leu | |
| NM_001113496.2:c.116G>T | NP_001106968.1:p.Arg39Leu | |
| NM_001293695.2:c.812G>T | NP_001280624.1:p.Arg271Leu | |
| NM_001293696.2:c.197G>T | NP_001280625.1:p.Arg66Leu | |
| NM_001293697.2:c.116G>T | NP_001280626.1:p.Arg39Leu | |
| NM_001293698.2:c.116G>T | NP_001280627.1:p.Arg39Leu | |
| NM_001113492.2:c.377G>T | NP_001106964.1:p.Arg126Leu | |
| NM_001113495.2:c.116G>T | NP_001106967.2:p.Arg39Leu | |
| NM_006640.5:c.815G>T MANE Plus Clinical | NP_006631.2:p.Arg272Leu |