Linked Data
ClinVar Variation Id:
619159
ClinVar RCV Id:
RCV000758119
dbSNP Id:
rs1565846899
gnomAD v4:
12-102852884-A-G
ERepo:
CA16020855/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852884A>G , CM000674.2:g.102852884A>G | GRCh38 |
| NC_000012.11:g.103246662A>G , CM000674.1:g.103246662A>G | GRCh37 |
| NC_000012.10:g.101770792A>G | NCBI36 |
| NG_008690.1:g.69719T>C | |
| NG_008690.2:g.110527T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.773T>C MANE Select | ENSP00000448059.1:p.Leu258Pro | |
| ENST00000307000.7:c.758T>C | ENSP00000303500.2:p.Leu253Pro | |
| ENST00000549247.6:n.532T>C | ||
| ENST00000553106.5:c.773T>C | ENSP00000448059.1:p.Leu258Pro | |
| NM_000277.1:c.773T>C | NP_000268.1:p.Leu258Pro | |
| XM_011538422.1:c.773T>C | XP_011536724.1:p.Leu258Pro | |
| NM_000277.2:c.773T>C | NP_000268.1:p.Leu258Pro | |
| NM_001354304.1:c.773T>C | NP_001341233.1:p.Leu258Pro | |
| NM_000277.3:c.773T>C MANE Select | NP_000268.1:p.Leu258Pro | |
| NM_001354304.2:c.773T>C | NP_001341233.1:p.Leu258Pro |