Linked Data
ClinVar Variation Id:
997
ClinVar RCV Id:
RCV000001052
dbSNP Id:
rs104894134
gnomAD v4:
9-97689575-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97689575A>T , CM000671.2:g.97689575A>T | GRCh38 |
| NC_000009.11:g.100451857A>T , CM000671.1:g.100451857A>T | GRCh37 |
| NC_000009.10:g.99491678A>T | NCBI36 |
| NG_011642.1:g.12835T>A , LRG_471:g.12835T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375128.5:c.348T>A MANE Select | ENSP00000364270.5:p.Tyr116Ter | |
| ENST00000375128.4:c.348T>A | ENSP00000364270.4:p.Tyr116Ter | |
| ENST00000462523.5:c.348T>A | ENSP00000433006.1:p.Tyr116Ter | |
| ENST00000496104.1:n.184-2314T>A | ||
| NM_000380.3:c.348T>A , LRG_471t1:c.348T>A | NP_000371.1:p.Tyr116Ter | |
| NR_027302.1:n.465T>A | ||
| XM_006717278.1:c.348T>A | XP_006717341.1:p.Tyr116Ter | |
| XM_011518988.1:c.348T>A | XP_011517290.1:p.Tyr116Ter | |
| XR_929839.1:n.459T>A | ||
| NM_001354975.1:c.222T>A | NP_001341904.1:p.Tyr74Ter | |
| NR_149091.1:n.400+4074T>A | ||
| NR_149092.1:n.401-2314T>A | ||
| NR_149093.1:n.465T>A | ||
| NR_149094.1:n.401-2314T>A | ||
| NM_000380.4:c.348T>A MANE Select | NP_000371.1:p.Tyr116Ter | |
| NM_001354975.2:c.222T>A | NP_001341904.1:p.Tyr74Ter | |
| NR_027302.2:n.396T>A | ||
| NR_149091.2:n.331+4074T>A | ||
| NR_149092.2:n.332-2314T>A | ||
| NR_149093.2:n.396T>A | ||
| NR_149094.2:n.332-2314T>A |