Linked Data
ClinVar Variation Id:
208908
ClinVar RCV Id:
RCV000201350
dbSNP Id:
rs863223376
gnomAD v3:
12-57769596-A-G
gnomAD v4:
12-57769596-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57769596A>G , CM000674.2:g.57769596A>G | GRCh38 |
| NC_000012.11:g.58163379A>G , CM000674.1:g.58163379A>G | GRCh37 |
| NC_000012.10:g.56449646A>G | NCBI36 |
| NG_007076.1:g.2598T>C | |
| NG_047060.1:g.7536T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324871.12:c.542T>C MANE Select | ENSP00000314441.7:p.Leu181Pro | |
| ENST00000257848.7:c.357T>C | ENSP00000257848.7:p.Ala119= | |
| ENST00000324871.11:c.542T>C | ENSP00000314441.7:p.Leu181Pro | |
| ENST00000547653.1:c.60T>C | ||
| ENST00000548504.1:c.135T>C | ||
| ENST00000551117.1:c.371T>C | ||
| ENST00000553125.5:c.*557T>C | ENSP00000448342.1:n.*557T>C | |
| NM_005371.5:c.542T>C | NP_005362.3:p.Leu181Pro | |
| NM_023033.3:c.357T>C | NP_075422.3:p.Ala119= | |
| XM_005268873.1:c.413T>C | XP_005268930.1:p.Leu138Pro | |
| XM_005268873.2:c.413T>C | XP_005268930.1:p.Leu138Pro | |
| XM_017019305.2:c.542T>C | XP_016874794.2:p.Leu181Pro | |
| NM_005371.6:c.542T>C MANE Select | NP_005362.3:p.Leu181Pro | |
| NM_023033.4:c.357T>C | NP_075422.3:p.Ala119= |