Linked Data
ClinVar Variation Id:
6663
ClinVar RCV Id:
RCV000007045
dbSNP Id:
rs121917864
ExAC:
4:154626088 C / T
gnomAD v2:
4-154626088-C-T
gnomAD v3:
4-153704936-C-T
gnomAD v4:
4-153704936-C-T
COSMIC:
COSM1539674
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153704936C>T , CM000666.2:g.153704936C>T | GRCh38 |
| NC_000004.11:g.154626088C>T , CM000666.1:g.154626088C>T | GRCh37 |
| NC_000004.10:g.154845538C>T | NCBI36 |
| NG_016229.1:g.25648C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643501.2:c.2029C>T | ENSP00000496208.2:p.Arg677Trp | |
| ENST00000646219.2:c.2029C>T | ENSP00000496676.2:p.Arg677Trp | |
| ENST00000646900.2:c.2029C>T | ENSP00000493968.2:p.Arg677Trp | |
| ENST00000642580.1:c.2029C>T | ENSP00000495339.1:p.Arg677Trp | |
| ENST00000642700.2:c.2029C>T MANE Select | ENSP00000494425.1:p.Arg677Trp | |
| ENST00000643087.1:c.307C>T | ENSP00000494668.1:p.Arg103Trp | |
| ENST00000260010.6:c.2029C>T | ENSP00000260010.6:p.Arg677Trp | |
| NM_003264.3:c.2029C>T | NP_003255.2:p.Arg677Trp | |
| XM_005263193.2:c.2029C>T | XP_005263250.1:p.Arg677Trp | |
| XM_005263194.2:c.2029C>T | XP_005263251.1:p.Arg677Trp | |
| XM_005263195.2:c.2029C>T | XP_005263252.1:p.Arg677Trp | |
| XM_005263196.2:c.2029C>T | XP_005263253.1:p.Arg677Trp | |
| XM_005263197.2:c.2029C>T | XP_005263254.1:p.Arg677Trp | |
| XM_011532215.1:c.2029C>T | XP_011530517.1:p.Arg677Trp | |
| XM_011532216.1:c.2029C>T | XP_011530518.1:p.Arg677Trp | |
| NM_001318787.1:c.2029C>T | NP_001305716.1:p.Arg677Trp | |
| NM_001318789.1:c.2029C>T | NP_001305718.1:p.Arg677Trp | |
| NM_001318790.1:c.2029C>T | NP_001305719.1:p.Arg677Trp | |
| NM_001318791.1:c.2029C>T | NP_001305720.1:p.Arg677Trp | |
| NM_001318793.1:c.2029C>T | NP_001305722.1:p.Arg677Trp | |
| NM_001318795.1:c.2029C>T | NP_001305724.1:p.Arg677Trp | |
| NM_001318796.1:c.2029C>T | NP_001305725.1:p.Arg677Trp | |
| NM_003264.4:c.2029C>T | NP_003255.2:p.Arg677Trp | |
| XM_011532215.2:c.2029C>T | XP_011530517.1:p.Arg677Trp | |
| XM_011532216.2:c.2029C>T | XP_011530518.1:p.Arg677Trp | |
| XM_017008573.1:c.2029C>T | XP_016864062.1:p.Arg677Trp | |
| XM_017008574.1:c.2029C>T | XP_016864063.1:p.Arg677Trp | |
| XM_017008575.1:c.2029C>T | XP_016864064.1:p.Arg677Trp | |
| XM_017008576.1:c.2029C>T | XP_016864065.1:p.Arg677Trp | |
| NM_001318787.2:c.2029C>T | NP_001305716.1:p.Arg677Trp | |
| NM_001318789.2:c.2029C>T MANE Select | NP_001305718.1:p.Arg677Trp | |
| NM_001318790.2:c.2029C>T | NP_001305719.1:p.Arg677Trp | |
| NM_001318791.2:c.2029C>T | NP_001305720.1:p.Arg677Trp | |
| NM_001318793.2:c.2029C>T | NP_001305722.1:p.Arg677Trp | |
| NM_001318795.2:c.2029C>T | NP_001305724.1:p.Arg677Trp | |
| NM_001318796.2:c.2029C>T | NP_001305725.1:p.Arg677Trp | |
| NM_003264.5:c.2029C>T | NP_003255.2:p.Arg677Trp |