Linked Data
ClinVar Variation Id:
577453
ClinVar RCV Id:
RCV000700213
dbSNP Id:
rs1257399328
gnomAD v3:
5-132609138-G-C
gnomAD v4:
5-132609138-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609138G>C , CM000667.2:g.132609138G>C | GRCh38 |
| NC_000005.9:g.131944830G>C , CM000667.1:g.131944830G>C | GRCh37 |
| NC_000005.8:g.131972729G>C | NCBI36 |
| NG_021151.1:g.57215G>C | |
| NG_021151.2:g.57162G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2851G>C MANE Select | ENSP00000368100.4:p.Val951Leu | |
| ENST00000638452.2:c.2554G>C | ENSP00000492349.2:p.Val852Leu | |
| ENST00000638504.1:n.2459G>C | ||
| ENST00000638568.2:c.2554G>C | ENSP00000491158.2:p.Val852Leu | |
| ENST00000639899.1:n.3370G>C | ||
| ENST00000640655.2:c.2554G>C | ENSP00000491596.2:p.Val852Leu | |
| ENST00000651160.1:c.*995G>C | ENSP00000498829.1:n.*995G>C | |
| ENST00000651723.1:c.*2934G>C | ENSP00000498237.1:n.*2934G>C | |
| ENST00000378823.7:c.2851G>C | ENSP00000368100.4:p.Val951Leu | |
| ENST00000423956.5:c.*1037G>C | ENSP00000390971.1:n.*1037G>C | |
| ENST00000533482.5:c.*2477G>C | ENSP00000431225.1:n.*2477G>C | |
| NM_005732.3:c.2851G>C | NP_005723.2:p.Val951Leu | |
| NM_005732.4:c.2851G>C MANE Select | NP_005723.2:p.Val951Leu |