Linked Data
ClinVar Variation Id:
432845
dbSNP Id:
rs145401873
gnomAD v2:
20-42815047-G-A
gnomAD v3:
20-44186407-G-A
gnomAD v4:
20-44186407-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44186407G>A , CM000682.2:g.44186407G>A | GRCh38 |
| NC_000020.10:g.42815047G>A , CM000682.1:g.42815047G>A | GRCh37 |
| NC_000020.9:g.42248461G>A | NCBI36 |
| NG_031867.1:g.6172C>T , LRG_394:g.6172C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.299C>T MANE Select | ENSP00000362071.3:p.Ser100Leu | |
| ENST00000342272.3:c.299C>T | ENSP00000344590.3:p.Ser100Leu | |
| ENST00000372980.3:c.299C>T | ENSP00000362071.3:p.Ser100Leu | |
| NM_020433.4:c.299C>T , LRG_394t1:c.299C>T | NP_065166.2:p.Ser100Leu | |
| NM_175913.3:c.299C>T | NP_787109.2:p.Ser100Leu | |
| XM_006723832.2:c.299C>T | XP_006723895.1:p.Ser100Leu | |
| XM_006723833.2:c.299C>T | XP_006723896.1:p.Ser100Leu | |
| XM_006723833.4:c.299C>T | XP_006723896.1:p.Ser100Leu | |
| NM_020433.5:c.299C>T MANE Select | NP_065166.2:p.Ser100Leu | |
| NM_175913.4:c.299C>T | NP_787109.2:p.Ser100Leu |