Linked Data
ClinVar Variation Id:
1224894
dbSNP Id:
rs2242665
ExAC:
6:31839309 C / T
gnomAD v2:
6-31839309-C-T
gnomAD v3:
6-31871532-C-T
gnomAD v4:
6-31871532-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31871532C>T , CM000668.2:g.31871532C>T | GRCh38 |
| NC_000006.11:g.31839309C>T , CM000668.1:g.31839309C>T | GRCh37 |
| NC_000006.10:g.31947288C>T | NCBI36 |
| NG_023058.1:g.12515G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229729.11:c.559G>A MANE Select | ENSP00000229729.6:p.Val187Ile | |
| ENST00000229729.10:c.559G>A | ENSP00000229729.6:p.Val187Ile | |
| ENST00000375562.8:c.433G>A | ENSP00000364712.4:p.Val145Ile | |
| ENST00000414427.1:c.546G>A | ||
| ENST00000544672.5:c.331G>A | ENSP00000444109.1:p.Val111Ile | |
| NM_001178044.1:c.433G>A | NP_001171515.1:p.Val145Ile | |
| NM_001178045.1:c.331G>A | NP_001171516.1:p.Val111Ile | |
| NM_025257.2:c.559G>A | NP_079533.2:p.Val187Ile | |
| NM_025257.3:c.559G>A MANE Select | NP_079533.2:p.Val187Ile | |
| NM_001178044.2:c.433G>A | NP_001171515.1:p.Val145Ile | |
| NM_001178045.2:c.331G>A | NP_001171516.1:p.Val111Ile |