Linked Data
ClinVar Variation Id:
692
ClinVar RCV Id:
RCV000000727
dbSNP Id:
rs80358199
gnomAD v3:
1-23846105-A-C
gnomAD v4:
1-23846105-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23846105A>C , CM000663.2:g.23846105A>C | GRCh38 |
| NC_000001.10:g.24172595A>C , CM000663.1:g.24172595A>C | GRCh37 |
| NC_000001.9:g.24045182A>C | NCBI36 |
| NG_013346.1:g.27265T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1229T>G MANE Select | ENSP00000363603.3:p.Leu410Arg | |
| ENST00000374479.3:c.1229T>G | ENSP00000363603.3:p.Leu410Arg | |
| NM_000147.4:c.1229T>G | NP_000138.2:p.Leu410Arg | |
| XM_005245821.1:c.854T>G | XP_005245878.1:p.Leu285Arg | |
| XM_011541167.1:c.596T>G | XP_011539469.1:p.Leu199Arg | |
| XM_005245821.3:c.854T>G | XP_005245878.1:p.Leu285Arg | |
| XM_011541167.3:c.596T>G | XP_011539469.1:p.Leu199Arg | |
| XM_017000905.2:c.926T>G | XP_016856394.1:p.Leu309Arg | |
| NM_000147.5:c.1229T>G MANE Select | NP_000138.2:p.Leu410Arg | |
| NR_174379.1:n.1407T>G | ||
| NR_174380.1:n.1456T>G | ||
| NR_174381.1:n.1295T>G | ||
| NR_174382.1:n.1692T>G |