Linked Data
ClinVar Variation Id:
440352
dbSNP Id:
rs370001536
ExAC:
9:140086933 C / T
gnomAD v2:
9-140086933-C-T
gnomAD v3:
9-137192481-C-T
gnomAD v4:
9-137192481-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137192481C>T , CM000671.2:g.137192481C>T | GRCh38 |
| NC_000009.11:g.140086933C>T , CM000671.1:g.140086933C>T | GRCh37 |
| NC_000009.10:g.139206754C>T | NCBI36 |
| NG_027801.1:g.13231G>A | |
| NG_027801.2:g.16713G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409012.6:c.1936G>A MANE Select | ENSP00000387100.4:p.Glu646Lys | |
| ENST00000333046.8:c.1330G>A | ENSP00000327617.4:p.Glu444Lys | |
| ENST00000409012.4:c.1936G>A | ENSP00000387100.4:p.Glu646Lys | |
| ENST00000477345.1:n.2657G>A | ||
| NM_001128228.2:c.1936G>A | NP_001121700.2:p.Glu646Lys | |
| NM_001128228.3:c.1936G>A MANE Select | NP_001121700.2:p.Glu646Lys |