Linked Data
ClinVar Variation Id:
516905
dbSNP Id:
rs35054019
ExAC:
3:148714662 A / T
gnomAD v2:
3-148714662-A-T
gnomAD v3:
3-148996875-A-T
gnomAD v4:
3-148996875-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148996875A>T , CM000665.2:g.148996875A>T | GRCh38 |
| NC_000003.11:g.148714662A>T , CM000665.1:g.148714662A>T | GRCh37 |
| NC_000003.10:g.150197352A>T | NCBI36 |
| NG_027677.1:g.10468A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345003.9:c.452A>T MANE Select | ENSP00000340736.4:p.His151Leu | |
| ENST00000296048.10:c.452A>T | ENSP00000296048.6:p.His151Leu | |
| ENST00000345003.8:c.452A>T | ENSP00000340736.4:p.His151Leu | |
| ENST00000461191.1:c.452A>T | ENSP00000420247.1:p.His151Leu | |
| ENST00000483267.5:c.452A>T | ENSP00000419499.1:p.His151Leu | |
| ENST00000484197.5:c.452A>T | ENSP00000420683.1:p.His151Leu | |
| ENST00000492285.6:c.314A>T | ENSP00000418297.2:p.His105Leu | |
| ENST00000497528.5:n.45A>T | ||
| ENST00000627418.2:c.452A>T | ENSP00000486061.1:p.His151Leu | |
| NM_001184720.1:c.452A>T | NP_001171649.1:p.His151Leu | |
| NM_001184721.1:c.452A>T | NP_001171650.1:p.His151Leu | |
| NM_004130.3:c.452A>T | NP_004121.2:p.His151Leu | |
| XM_017006275.1:c.275A>T | XP_016861764.1:p.His92Leu | |
| NM_004130.4:c.452A>T MANE Select | NP_004121.2:p.His151Leu | |
| NM_001184720.2:c.452A>T | NP_001171649.1:p.His151Leu | |
| NM_001184721.2:c.452A>T | NP_001171650.1:p.His151Leu |