Linked Data
dbSNP Id:
rs369133002
ExAC:
12:65633720 G / A
gnomAD v2:
12-65633720-G-A
gnomAD v3:
12-65239940-G-A
gnomAD v4:
12-65239940-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65239940G>A , CM000674.2:g.65239940G>A | GRCh38 |
| NC_000012.11:g.65633720G>A , CM000674.1:g.65633720G>A | GRCh37 |
| NC_000012.10:g.63919987G>A | NCBI36 |
| NG_016210.1:g.75370G>A | |
| NG_016210.2:g.75370G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1933G>A MANE Select | ENSP00000308369.2:p.Val645Ile | |
| ENST00000308330.2:c.1933G>A | ENSP00000308369.2:p.Val645Ile | |
| NM_001167614.1:c.1930G>A | NP_001161086.1:p.Val644Ile | |
| NM_014319.4:c.1933G>A | NP_055134.2:p.Val645Ile | |
| NM_014319.5:c.1933G>A MANE Select | NP_055134.2:p.Val645Ile | |
| NM_001167614.2:c.1930G>A | NP_001161086.1:p.Val644Ile |