Linked Data
ClinVar Variation Id:
6862
ClinVar RCV Id:
RCV000007265
dbSNP Id:
rs121434434
gnomAD v4:
16-1447040-A-G
PubMed:
PMID:11741829
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1447040A>G , CM000678.2:g.1447040A>G | GRCh38 |
| NC_000016.9:g.1497041A>G , CM000678.1:g.1497041A>G | GRCh37 |
| NC_000016.8:g.1437042A>G | NCBI36 |
| NG_007567.1:g.33045T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699947.1:c.2297T>C | ENSP00000514703.1:p.Leu766Pro | |
| ENST00000699948.1:c.*610T>C | ENSP00000514704.1:n.*610T>C | |
| ENST00000382745.9:c.2297T>C MANE Select | ENSP00000372193.4:p.Leu766Pro | |
| ENST00000262318.12:c.2226T>C | ENSP00000262318.8:p.Pro742= | |
| ENST00000382745.8:c.2297T>C | ENSP00000372193.4:p.Leu766Pro | |
| ENST00000448525.5:c.2225T>C | ENSP00000410907.1:p.Leu742Pro | |
| ENST00000563642.6:n.2366T>C | ||
| ENST00000565092.6:n.1332T>C | ||
| ENST00000567836.2:n.538T>C | ||
| NM_001114331.2:c.2225T>C | NP_001107803.1:p.Leu742Pro | |
| NM_001287.5:c.2297T>C | NP_001278.1:p.Leu766Pro | |
| XM_011522354.1:c.2123T>C | XP_011520656.1:p.Leu708Pro | |
| NM_001287.6:c.2297T>C MANE Select | NP_001278.1:p.Leu766Pro | |
| NM_001114331.3:c.2225T>C | NP_001107803.1:p.Leu742Pro |