Linked Data
ClinVar Variation Id:
1923607
ClinVar RCV Id:
RCV002604778
dbSNP Id:
rs1412753935
gnomAD v4:
11-1753508-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753508G>A , CM000673.2:g.1753508G>A | GRCh38 |
| NC_000011.9:g.1774738G>A , CM000673.1:g.1774738G>A | GRCh37 |
| NC_000011.8:g.1731314G>A | NCBI36 |
| NG_008655.1:g.15485C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1234C>T MANE Select | ENSP00000236671.2:p.Leu412Phe | |
| ENST00000367196.4:c.1129C>T | ENSP00000356164.4:p.Leu377Phe | |
| ENST00000427721.3:c.634+25C>T | ||
| ENST00000429746.2:c.1129C>T | ENSP00000402586.2:p.Leu377Phe | |
| ENST00000433655.6:c.*400C>T | ENSP00000404902.1:n.*400C>T | |
| ENST00000438213.6:c.1351C>T | ENSP00000415036.2:p.Leu451Phe | |
| ENST00000636397.1:c.1071+295C>T | ENSP00000489910.1:n.1071+295C>T | |
| ENST00000636571.1:c.1213C>T | ENSP00000490770.1:p.Leu405Phe | |
| ENST00000636579.1:c.72+295C>T | ENSP00000490489.1:n.72+295C>T | |
| ENST00000636615.1:c.1071+295C>T | ENSP00000490014.1:n.1071+295C>T | |
| ENST00000636843.1:c.1228C>T | ENSP00000490897.1:p.Leu410Phe | |
| ENST00000637158.1:n.832C>T | ||
| ENST00000637381.2:n.3662C>T | ||
| ENST00000637387.1:c.1213C>T | ENSP00000490598.1:p.Leu405Phe | |
| ENST00000637815.2:c.1216C>T | ENSP00000490344.1:p.Leu406Phe | |
| ENST00000637915.1:c.1225C>T | ENSP00000490471.1:p.Leu409Phe | |
| ENST00000637937.1:n.542C>T | ||
| ENST00000678991.1:c.*1095C>T | ENSP00000503019.1:n.*1095C>T | |
| ENST00000236671.6:c.1234C>T | ENSP00000236671.2:p.Leu412Phe | |
| ENST00000427721.2:c.471+295C>T | ENSP00000415840.2:n.471+295C>T | |
| ENST00000429746.1:c.565C>T | ENSP00000402586.1:p.Leu189Phe | |
| ENST00000433655.5:c.*400C>T | ENSP00000404902.1:n.*400C>T | |
| NM_001909.4:c.1234C>T | NP_001900.1:p.Leu412Phe | |
| NM_001909.5:c.1234C>T MANE Select | NP_001900.1:p.Leu412Phe |