Linked Data
ClinVar Variation Id:
195342
dbSNP Id:
rs202141764
ExAC:
15:91561076 T / A
gnomAD v2:
15-91561076-T-A
gnomAD v3:
15-91017846-T-A
gnomAD v4:
15-91017846-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91017846T>A , CM000677.2:g.91017846T>A | GRCh38 |
| NC_000015.9:g.91561076T>A , CM000677.1:g.91561076T>A | GRCh37 |
| NC_000015.8:g.89362080T>A | NCBI36 |
| NG_012162.1:g.9758A>T , LRG_884:g.9758A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333371.8:c.136A>T MANE Select | ENSP00000327650.4:p.Met46Leu | |
| ENST00000643536.1:c.136A>T | ENSP00000494429.1:p.Met46Leu | |
| ENST00000647331.1:c.136A>T | ENSP00000493953.1:p.Met46Leu | |
| ENST00000333371.7:c.136A>T | ENSP00000327650.3:p.Met46Leu | |
| ENST00000535906.1:c.97-822A>T | ENSP00000444053.1:n.97-822A>T | |
| ENST00000554264.5:n.59A>T | ||
| ENST00000556096.6:n.490A>T | ||
| ENST00000557358.1:n.444-3413A>T | ||
| ENST00000574755.5:c.136A>T | ENSP00000460413.1:p.Met46Leu | |
| NM_001289148.1:c.97-822A>T | NP_001276077.1:n.97-822A>T | |
| NM_001289149.1:c.-76A>T | NP_001276078.1:n.-76A>T | |
| NM_018668.4:c.136A>T , LRG_884t1:c.136A>T | NP_061138.3:p.Met46Leu | |
| XM_005254884.2:c.136A>T | XP_005254941.1:p.Met46Leu | |
| XM_005254887.1:c.-34-3413A>T | XP_005254944.1:n.-34-3413A>T | |
| XM_005254888.2:c.136A>T | XP_005254945.1:p.Met46Leu | |
| XM_011521448.1:c.-178A>T | XP_011519750.1:n.-178A>T | |
| XM_017022075.2:c.-226A>T | XP_016877564.1:n.-226A>T | |
| XM_017022076.1:c.-122-3413A>T | XP_016877565.1:n.-122-3413A>T | |
| XR_001751213.2:n.472A>T | ||
| NM_018668.5:c.136A>T MANE Select | NP_061138.3:p.Met46Leu |