Linked Data
ClinVar Variation Id:
212799
dbSNP Id:
rs138048445
ExAC:
12:52308279 G / A
gnomAD v2:
12-52308279-G-A
gnomAD v3:
12-51914495-G-A
gnomAD v4:
12-51914495-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51914495G>A , CM000674.2:g.51914495G>A | GRCh38 |
| NC_000012.11:g.52308279G>A , CM000674.1:g.52308279G>A | GRCh37 |
| NC_000012.10:g.50594546G>A | NCBI36 |
| NG_009549.1:g.12078G>A , LRG_543:g.12078G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.412G>A | ENSP00000446724.2:p.Val138Ile | |
| ENST00000551576.6:c.682G>A | ENSP00000455848.2:p.Val228Ile | |
| ENST00000552678.2:c.682G>A | ENSP00000457394.2:p.Val228Ile | |
| ENST00000388922.9:c.682G>A MANE Select | ENSP00000373574.4:p.Val228Ile | |
| ENST00000388922.8:c.682G>A | ENSP00000373574.4:p.Val228Ile | |
| ENST00000419526.6:c.160G>A | ENSP00000392492.2:p.Val54Ile | |
| ENST00000547400.5:c.412G>A | ENSP00000446724.1:p.Val138Ile | |
| ENST00000550683.5:c.724G>A | ENSP00000447884.1:p.Val242Ile | |
| NM_000020.2:c.682G>A , LRG_543t1:c.682G>A | NP_000011.2:p.Val228Ile | |
| NM_001077401.1:c.682G>A | NP_001070869.1:p.Val228Ile | |
| XM_005269235.2:c.682G>A | XP_005269292.1:p.Val228Ile | |
| XM_011539008.1:c.412G>A | XP_011537310.1:p.Val138Ile | |
| XM_024449279.1:c.-108G>A | XP_024305047.1:n.-108G>A | |
| NM_000020.3:c.682G>A MANE Select | NP_000011.2:p.Val228Ile | |
| NM_001077401.2:c.682G>A | NP_001070869.1:p.Val228Ile |