Linked Data
ClinVar Variation Id:
1478832
ClinVar RCV Id:
RCV001974374
dbSNP Id:
rs2127396874
gnomAD v4:
5-149026644-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149026644A>G , CM000667.2:g.149026644A>G | GRCh38 |
| NC_000005.9:g.148406207A>G , CM000667.1:g.148406207A>G | GRCh37 |
| NC_000005.8:g.148386400A>G | NCBI36 |
| NG_007947.2:g.41531T>C , LRG_269:g.41531T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.2877T>C | ||
| ENST00000515425.6:c.2981T>C MANE Select | ENSP00000423660.1:p.Leu994Pro | |
| ENST00000675793.1:c.*2265T>C | ENSP00000502039.1:n.*2265T>C | |
| ENST00000676056.1:c.*2491T>C | ENSP00000501827.1:n.*2491T>C | |
| ENST00000323829.9:c.*2369T>C | ENSP00000313025.5:n.*2369T>C | |
| ENST00000504517.5:c.2511T>C | ENSP00000421779.1:n.2511T>C | |
| ENST00000504690.5:c.2981T>C | ENSP00000425627.1:p.Leu994Pro | |
| ENST00000510779.1:c.2031T>C | ||
| ENST00000511307.5:c.*2868T>C | ENSP00000421420.1:n.*2868T>C | |
| ENST00000512049.5:c.2960T>C | ENSP00000421860.1:p.Leu987Pro | |
| ENST00000513604.5:c.*2476T>C | ENSP00000423111.1:n.*2476T>C | |
| ENST00000515425.5:c.2981T>C | ENSP00000423660.1:p.Leu994Pro | |
| NM_024577.3:c.2981T>C , LRG_269t1:c.2981T>C | NP_078853.2:p.Leu994Pro | |
| NM_024577.4:c.2981T>C MANE Select | NP_078853.2:p.Leu994Pro |