Linked Data
ClinVar Variation Id:
1448211
ClinVar RCV Id:
RCV002002190
dbSNP Id:
rs367924086
ExAC:
1:147231030 C / A
gnomAD v2:
1-147231030-C-A
gnomAD v3:
1-147758922-C-A
gnomAD v4:
1-147758922-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147758922C>A , CM000663.2:g.147758922C>A | GRCh38 |
| NC_000001.10:g.147231030C>A , CM000663.1:g.147231030C>A | GRCh37 |
| NC_000001.9:g.145697654C>A | NCBI36 |
| NG_009369.2:g.19453G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579774.3:c.317G>T MANE Select | ENSP00000463851.1:p.Arg106Leu | |
| ENST00000430508.1:c.317G>T | ENSP00000407645.1:p.Arg106Leu | |
| ENST00000579774.2:c.317G>T | ENSP00000463851.1:p.Arg106Leu | |
| ENST00000621517.1:c.317G>T | ENSP00000484552.1:p.Arg106Leu | |
| NM_005266.6:c.317G>T | NP_005257.2:p.Arg106Leu | |
| NM_181703.3:c.317G>T | NP_859054.1:p.Arg106Leu | |
| XM_005272951.3:c.317G>T | XP_005273008.1:p.Arg106Leu | |
| XM_011509415.1:c.317G>T | XP_011507717.1:p.Arg106Leu | |
| XR_922078.1:n.434-18639C>A | ||
| XR_922079.1:n.434-18639C>A | ||
| XM_005272951.4:c.317G>T | XP_005273008.1:p.Arg106Leu | |
| XM_017001044.1:c.317G>T | XP_016856533.1:p.Arg106Leu | |
| XR_922079.3:n.744-18639C>A | ||
| NM_181703.4:c.317G>T MANE Select | NP_859054.1:p.Arg106Leu | |
| NM_005266.7:c.317G>T | NP_005257.2:p.Arg106Leu |