Linked Data
ClinVar Variation Id:
65813
ClinVar RCV Id:
RCV003330421
dbSNP Id:
rs368790049
ExAC:
2:26683072 G / A
gnomAD v2:
2-26683072-G-A
gnomAD v3:
2-26460204-G-A
gnomAD v4:
2-26460204-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26460204G>A , CM000664.2:g.26460204G>A | GRCh38 |
| NC_000002.11:g.26683072G>A , CM000664.1:g.26683072G>A | GRCh37 |
| NC_000002.10:g.26536576G>A | NCBI36 |
| NG_009937.1:g.103495C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.5815C>T MANE Select | ENSP00000272371.2:p.Arg1939Trp | |
| ENST00000339598.8:c.3512+443C>T MANE Plus Clinical | ENSP00000344521.3:n.3512+443C>T | |
| ENST00000402415.8:c.3574C>T | ENSP00000383906.4:p.Arg1192Trp | |
| ENST00000272371.6:c.5815C>T | ENSP00000272371.2:p.Arg1939Trp | |
| ENST00000338581.10:c.3514C>T | ENSP00000345137.6:p.Arg1172Trp | |
| ENST00000339598.7:c.3512+443C>T | ENSP00000344521.3:n.3512+443C>T | |
| ENST00000402415.7:c.3745C>T | ENSP00000383906.3:p.Arg1249Trp | |
| ENST00000403946.7:c.5813+443C>T | ENSP00000385255.3:n.5813+443C>T | |
| NM_001287489.1:c.5813+443C>T | NP_001274418.1:n.5813+443C>T | |
| NM_004802.3:c.3514C>T | NP_004793.2:p.Arg1172Trp | |
| NM_194248.2:c.5815C>T | NP_919224.1:p.Arg1939Trp | |
| NM_194322.2:c.3745C>T | NP_919303.1:p.Arg1249Trp | |
| NM_194323.2:c.3512+443C>T | NP_919304.1:n.3512+443C>T | |
| XM_005264644.2:c.5798+443C>T | XP_005264701.1:n.5798+443C>T | |
| XM_011533185.1:c.5858+443C>T | XP_011531487.1:n.5858+443C>T | |
| XM_017005338.1:c.5755C>T | XP_016860827.1:p.Arg1919Trp | |
| NM_001287489.2:c.5813+443C>T | NP_001274418.1:n.5813+443C>T | |
| NM_004802.4:c.3514C>T | NP_004793.2:p.Arg1172Trp | |
| NM_194248.3:c.5815C>T MANE Select | NP_919224.1:p.Arg1939Trp | |
| NM_194322.3:c.3745C>T | NP_919303.1:p.Arg1249Trp | |
| NM_194323.3:c.3512+443C>T MANE Plus Clinical | NP_919304.1:n.3512+443C>T |