Linked Data
ClinVar Variation Id:
343574
ClinVar RCV Id:
RCV000674640
dbSNP Id:
rs886058051
gnomAD v4:
3-14158698-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14158698C>T , CM000665.2:g.14158698C>T | GRCh38 |
| NC_000003.11:g.14200198C>T , CM000665.1:g.14200198C>T | GRCh37 |
| NC_000003.10:g.14175202C>T | NCBI36 |
| NG_011763.1:g.24975G>A , LRG_472:g.24975G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.1185G>A MANE Select | ENSP00000285021.8:p.Lys395= | |
| ENST00000285021.11:c.1185G>A | ENSP00000285021.7:p.Lys395= | |
| ENST00000476581.6:c.*638G>A | ENSP00000424548.1:n.*638G>A | |
| NM_004628.4:c.1185G>A , LRG_472t1:c.1185G>A | NP_004619.3:p.Lys395= | |
| NR_027299.1:n.1165G>A | ||
| XM_011534092.1:c.1185G>A | XP_011532394.1:p.Lys395= | |
| XM_011534093.1:c.1185G>A | XP_011532395.1:p.Lys395= | |
| NM_001354726.1:c.606G>A | NP_001341655.1:p.Lys202= | |
| NM_001354727.1:c.1185G>A | NP_001341656.1:p.Lys395= | |
| NM_001354729.1:c.1167G>A | NP_001341658.1:p.Lys389= | |
| NM_001354730.1:c.1185G>A | NP_001341659.1:p.Lys395= | |
| NR_148950.1:n.1289G>A | ||
| NR_148951.1:n.1165G>A | ||
| XR_001740256.2:n.1218G>A | ||
| XR_002959580.1:n.1218G>A | ||
| XR_002959581.1:n.1218G>A | ||
| NM_001354727.2:c.1185G>A | NP_001341656.1:p.Lys395= | |
| NM_004628.5:c.1185G>A MANE Select | NP_004619.3:p.Lys395= | |
| NR_148950.2:n.1218G>A | ||
| NR_148951.2:n.1094G>A | ||
| NM_001354726.2:c.606G>A | NP_001341655.1:p.Lys202= | |
| NM_001354729.2:c.1167G>A | NP_001341658.1:p.Lys389= | |
| NM_001354730.2:c.1185G>A | NP_001341659.1:p.Lys395= |