Linked Data
ClinVar Variation Id:
1310161
ClinVar RCV Id:
RCV001757229
dbSNP Id:
rs751784781
ExAC:
3:45517964 A / T
gnomAD v2:
3-45517964-A-T
gnomAD v3:
3-45476472-A-T
gnomAD v4:
3-45476472-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45476472A>T , CM000665.2:g.45476472A>T | GRCh38 |
| NC_000003.11:g.45517964A>T , CM000665.1:g.45517964A>T | GRCh37 |
| NC_000003.10:g.45492968A>T | NCBI36 |
| NG_033907.1:g.92890A>T | |
| NG_033907.2:g.92890A>T | |
| NG_033907.3:g.92909A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265537.8:c.863A>T | ENSP00000265537.4:p.His288Leu | |
| ENST00000642274.1:c.863A>T | ENSP00000495707.1:p.His288Leu | |
| ENST00000645846.2:c.863A>T MANE Select | ENSP00000495093.1:p.His288Leu | |
| ENST00000650792.2:c.863A>T | ENSP00000498867.1:p.His288Leu | |
| ENST00000651549.1:c.863A>T | ENSP00000499002.1:p.His288Leu | |
| ENST00000652135.1:c.*731A>T | ENSP00000499104.1:n.*731A>T | |
| ENST00000265537.7:c.863A>T | ENSP00000265537.3:p.His288Leu | |
| ENST00000414984.5:c.734A>T | ENSP00000412893.1:p.His245Leu | |
| ENST00000415258.5:c.863A>T | ENSP00000408576.1:p.His288Leu | |
| NM_015340.3:c.863A>T | NP_056155.1:p.His288Leu | |
| XM_005265006.1:c.863A>T | XP_005265063.1:p.His288Leu | |
| XM_011533554.1:c.863A>T | XP_011531856.1:p.His288Leu | |
| XM_005265006.2:c.863A>T | XP_005265063.1:p.His288Leu | |
| XM_011533554.2:c.863A>T | XP_011531856.1:p.His288Leu | |
| XM_017006042.1:c.863A>T | XP_016861531.1:p.His288Leu | |
| NM_015340.4:c.863A>T MANE Select | NP_056155.1:p.His288Leu | |
| NM_001368263.1:c.863A>T | NP_001355192.1:p.His288Leu |