Linked Data
ClinVar Variation Id:
3675
ClinVar RCV Id:
RCV000003860
dbSNP Id:
rs121908045
ExAC:
1:24123618 A / G
gnomAD v2:
1-24123618-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23797128A>G , CM000663.2:g.23797128A>G | GRCh38 |
| NC_000001.10:g.24123618A>G , CM000663.1:g.24123618A>G | GRCh37 |
| NC_000001.9:g.23996205A>G | NCBI36 |
| NG_007068.1:g.8677T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617979.5:c.548T>C MANE Select | ENSP00000483375.1:p.Leu183Pro | |
| ENST00000374497.7:c.548T>C | ENSP00000363621.3:p.Leu183Pro | |
| ENST00000418277.5:c.356T>C | ENSP00000414719.1:p.Leu119Pro | |
| ENST00000425913.5:c.548T>C | ENSP00000393359.1:p.Leu183Pro | |
| ENST00000429356.5:c.356T>C | ENSP00000398585.1:p.Leu119Pro | |
| ENST00000445705.1:c.548T>C | ENSP00000398257.1:p.Leu183Pro | |
| ENST00000459934.5:n.666T>C | ||
| ENST00000470949.5:n.493T>C | ||
| ENST00000481736.5:n.952T>C | ||
| ENST00000617979.4:c.548T>C | ENSP00000483375.1:p.Leu183Pro | |
| NM_000403.3:c.548T>C | NP_000394.2:p.Leu183Pro | |
| NM_001008216.1:c.548T>C | NP_001008217.1:p.Leu183Pro | |
| NM_001127621.1:c.548T>C | NP_001121093.1:p.Leu183Pro | |
| NM_001008216.2:c.548T>C MANE Select | NP_001008217.1:p.Leu183Pro | |
| NM_000403.4:c.548T>C | NP_000394.2:p.Leu183Pro | |
| NM_001127621.2:c.548T>C | NP_001121093.1:p.Leu183Pro |