Linked Data
ClinVar Variation Id:
1469460
ClinVar RCV Id:
RCV001993907
dbSNP Id:
rs1241449379
gnomAD v2:
19-36398375-C-G
gnomAD v3:
19-35907473-C-G
gnomAD v4:
19-35907473-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35907473C>G , CM000681.2:g.35907473C>G | GRCh38 |
| NC_000019.9:g.36398375C>G , CM000681.1:g.36398375C>G | GRCh37 |
| NC_000019.8:g.41090215C>G | NCBI36 |
| NG_009304.1:g.5812G>C , LRG_607:g.5812G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262629.9:c.202G>C MANE Select | ENSP00000262629.3:p.Val68Leu | |
| ENST00000262629.8:c.202G>C | ENSP00000262629.3:p.Val68Leu | |
| ENST00000424586.7:c.169G>C | ENSP00000402371.3:p.Val57Leu | |
| ENST00000544690.6:c.169G>C | ENSP00000445332.1:p.Val57Leu | |
| ENST00000585626.1:n.269G>C | ||
| ENST00000585901.6:c.202G>C | ENSP00000468608.1:p.Val68Leu | |
| ENST00000586946.1:c.*87G>C | ENSP00000465656.1:n.*87G>C | |
| ENST00000587837.5:c.*87G>C | ENSP00000465081.1:n.*87G>C | |
| ENST00000588439.1:n.346G>C | ||
| ENST00000589517.1:c.202G>C | ENSP00000468447.1:p.Val68Leu | |
| NM_001173514.1:c.169G>C | NP_001166985.1:p.Val57Leu | |
| NM_001173515.1:c.169G>C | NP_001166986.1:p.Val57Leu | |
| NM_003332.3:c.202G>C , LRG_607t1:c.202G>C | NP_003323.1:p.Val68Leu | |
| NM_198125.2:c.202G>C | NP_937758.1:p.Val68Leu | |
| NR_033390.1:n.243G>C | ||
| NM_001173514.2:c.169G>C | NP_001166985.1:p.Val57Leu | |
| NM_001173515.2:c.169G>C | NP_001166986.1:p.Val57Leu | |
| NM_003332.4:c.202G>C MANE Select | NP_003323.1:p.Val68Leu | |
| NM_198125.3:c.202G>C | NP_937758.1:p.Val68Leu | |
| NR_033390.2:n.229G>C |