Linked Data
ClinVar Variation Id:
2086381
ClinVar RCV Id:
RCV003007457
dbSNP Id:
rs1394368814
gnomAD v4:
2-15218849-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15218849A>C , CM000664.2:g.15218849A>C | GRCh38 |
| NC_000002.11:g.15358973A>C , CM000664.1:g.15358973A>C | GRCh37 |
| NC_000002.10:g.15276424A>C | NCBI36 |
| NG_032964.1:g.347500T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.4342T>G | ||
| ENST00000700062.1:c.4426+13573T>G | ||
| ENST00000700063.1:c.867T>G | ||
| ENST00000700064.1:c.2212T>G | ||
| ENST00000281513.10:c.6356T>G MANE Select | ENSP00000281513.5:p.Leu2119Arg | |
| ENST00000281513.9:c.6356T>G | ENSP00000281513.5:p.Leu2119Arg | |
| ENST00000417461.5:c.512+13573T>G | ENSP00000392421.1:n.512+13573T>G | |
| ENST00000442506.5:c.3499T>G | ||
| NM_015909.3:c.6356T>G | NP_056993.2:p.Leu2119Arg | |
| NR_052013.2:n.6280+13573T>G | ||
| XM_011510357.1:c.6227T>G | XP_011508659.1:p.Leu2076Arg | |
| XM_011510358.1:c.6356T>G | XP_011508660.1:p.Leu2119Arg | |
| XM_011510359.1:c.5717T>G | XP_011508661.1:p.Leu1906Arg | |
| XM_011510360.1:c.4157T>G | XP_011508662.1:p.Leu1386Arg | |
| XM_011510361.1:c.4148T>G | XP_011508663.1:p.Leu1383Arg | |
| XM_011510357.2:c.6227T>G | XP_011508659.1:p.Leu2076Arg | |
| XM_011510358.2:c.6356T>G | XP_011508660.1:p.Leu2119Arg | |
| XM_011510360.2:c.4157T>G | XP_011508662.1:p.Leu1386Arg | |
| XM_011510361.2:c.4148T>G | XP_011508663.1:p.Leu1383Arg | |
| XM_017004317.1:c.6356T>G | XP_016859806.1:p.Leu2119Arg | |
| XM_024452961.1:c.5717T>G | XP_024308729.1:p.Leu1906Arg | |
| NM_015909.4:c.6356T>G MANE Select | NP_056993.2:p.Leu2119Arg | |
| NR_052013.3:n.6266+13573T>G |