Linked Data
ClinVar Variation Id:
2967321
ClinVar RCV Id:
RCV003823999
dbSNP Id:
rs1193488480
gnomAD v4:
1-197088383-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197088383A>T , CM000663.2:g.197088383A>T | GRCh38 |
| NC_000001.10:g.197057513A>T , CM000663.1:g.197057513A>T | GRCh37 |
| NC_000001.9:g.195324136A>T | NCBI36 |
| NG_015867.1:g.63312T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.3321T>A | ||
| ENST00000367409.9:c.10034T>A MANE Select | ENSP00000356379.4:p.Ile3345Lys | |
| ENST00000680265.1:c.10256T>A | ENSP00000505384.1:p.Ile3419Lys | |
| ENST00000680710.1:c.10010T>A | ENSP00000506676.1:p.Ile3337Lys | |
| ENST00000294732.11:c.5279T>A | ENSP00000294732.7:p.Ile1760Lys | |
| ENST00000367408.5:c.3029T>A | ENSP00000356378.1:p.Ile1010Lys | |
| ENST00000367409.8:c.10034T>A | ENSP00000356379.4:p.Ile3345Lys | |
| ENST00000612785.1:c.3992T>A | ENSP00000479244.1:p.Ile1331Lys | |
| NM_001206846.1:c.5279T>A | NP_001193775.1:p.Ile1760Lys | |
| NM_018136.4:c.10034T>A | NP_060606.3:p.Ile3345Lys | |
| NM_018136.5:c.10034T>A MANE Select | NP_060606.3:p.Ile3345Lys | |
| NM_001206846.2:c.5279T>A | NP_001193775.1:p.Ile1760Lys |