Linked Data
ClinVar Variation Id:
2452810
ClinVar RCV Id:
RCV003177584
dbSNP Id:
rs555452405
ExAC:
12:52307130 G / A
gnomAD v2:
12-52307130-G-A
gnomAD v3:
12-51913346-G-A
gnomAD v4:
12-51913346-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51913346G>A , CM000674.2:g.51913346G>A | GRCh38 |
| NC_000012.11:g.52307130G>A , CM000674.1:g.52307130G>A | GRCh37 |
| NC_000012.10:g.50593397G>A | NCBI36 |
| NG_009549.1:g.10929G>A , LRG_543:g.10929G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.351G>A | ENSP00000446724.2:p.Leu117= | |
| ENST00000551576.6:c.309G>A | ENSP00000455848.2:p.Leu103= | |
| ENST00000552678.2:c.309G>A | ENSP00000457394.2:p.Leu103= | |
| ENST00000388922.9:c.309G>A MANE Select | ENSP00000373574.4:p.Leu103= | |
| ENST00000388922.8:c.309G>A | ENSP00000373574.4:p.Leu103= | |
| ENST00000419526.6:c.103+811G>A | ENSP00000392492.2:n.103+811G>A | |
| ENST00000547400.5:c.351G>A | ENSP00000446724.1:p.Leu117= | |
| ENST00000550683.5:c.351G>A | ENSP00000447884.1:p.Leu117= | |
| NM_000020.2:c.309G>A , LRG_543t1:c.309G>A | NP_000011.2:p.Leu103= | |
| NM_001077401.1:c.309G>A | NP_001070869.1:p.Leu103= | |
| XM_005269235.2:c.309G>A | XP_005269292.1:p.Leu103= | |
| XM_011539008.1:c.351G>A | XP_011537310.1:p.Leu117= | |
| XM_024449279.1:c.-381G>A | XP_024305047.1:n.-381G>A | |
| NM_000020.3:c.309G>A MANE Select | NP_000011.2:p.Leu103= | |
| NM_001077401.2:c.309G>A | NP_001070869.1:p.Leu103= |