Linked Data
ClinVar Variation Id:
3075205
dbSNP Id:
rs1211308568
gnomAD v2:
1-17345398-T-A
gnomAD v4:
1-17018903-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018903T>A , CM000663.2:g.17018903T>A | GRCh38 |
| NC_000001.10:g.17345398T>A , CM000663.1:g.17345398T>A | GRCh37 |
| NC_000001.9:g.17217985T>A | NCBI36 |
| NG_012340.1:g.40268A>T , LRG_316:g.40268A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.650A>T | ENSP00000481376.2:p.Lys217Met | |
| ENST00000491274.6:c.779A>T | ENSP00000480482.2:p.Lys260Met | |
| ENST00000375499.8:c.821A>T MANE Select | ENSP00000364649.3:p.Lys274Met | |
| ENST00000375499.7:c.821A>T | ENSP00000364649.3:p.Lys274Met | |
| ENST00000475049.5:n.246A>T | ||
| ENST00000485092.5:n.485A>T | ||
| NM_003000.2:c.821A>T , LRG_316t1:c.821A>T | NP_002991.2:p.Lys274Met | |
| NM_003000.3:c.821A>T MANE Select | NP_002991.2:p.Lys274Met |