Linked Data
ClinVar Variation Id:
2663132
ClinVar RCV Id:
RCV003442320
dbSNP Id:
rs1357403456
gnomAD v2:
6-24291214-T-A
gnomAD v4:
6-24290986-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290986T>A , CM000668.2:g.24290986T>A | GRCh38 |
| NC_000006.11:g.24291214T>A , CM000668.1:g.24291214T>A | GRCh37 |
| NC_000006.10:g.24399193T>A | NCBI36 |
| NG_012829.1:g.72067A>T | |
| NG_012829.2:g.97307A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378454.8:c.650A>T MANE Select | ENSP00000367715.3:p.Lys217Ile | |
| ENST00000378454.7:c.650A>T | ENSP00000367715.3:p.Lys217Ile | |
| NM_001195610.1:c.650A>T | NP_001182539.1:p.Lys217Ile | |
| NM_016356.4:c.650A>T | NP_057440.2:p.Lys217Ile | |
| NM_016356.5:c.650A>T MANE Select | NP_057440.2:p.Lys217Ile | |
| NM_001195610.2:c.650A>T | NP_001182539.1:p.Lys217Ile |