Linked Data
ClinVar Variation Id:
2196109
ClinVar RCV Id:
RCV002633416
dbSNP Id:
rs138436082
ExAC:
5:148407497 C / T
gnomAD v2:
5-148407497-C-T
gnomAD v3:
5-149027934-C-T
gnomAD v4:
5-149027934-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027934C>T , CM000667.2:g.149027934C>T | GRCh38 |
| NC_000005.9:g.148407497C>T , CM000667.1:g.148407497C>T | GRCh37 |
| NC_000005.8:g.148387690C>T | NCBI36 |
| NG_007947.2:g.40241G>A , LRG_269:g.40241G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502274.2:c.1694G>A | ||
| ENST00000515425.6:c.1798G>A MANE Select | ENSP00000423660.1:p.Ala600Thr | |
| ENST00000675793.1:c.*1082G>A | ENSP00000502039.1:n.*1082G>A | |
| ENST00000676056.1:c.*1308G>A | ENSP00000501827.1:n.*1308G>A | |
| ENST00000323829.9:c.*1186G>A | ENSP00000313025.5:n.*1186G>A | |
| ENST00000504517.5:c.1328G>A | ENSP00000421779.1:n.1328G>A | |
| ENST00000504690.5:c.1798G>A | ENSP00000425627.1:p.Ala600Thr | |
| ENST00000510779.1:c.848G>A | ||
| ENST00000511307.5:c.*1578G>A | ENSP00000421420.1:n.*1578G>A | |
| ENST00000512049.5:c.1777G>A | ENSP00000421860.1:p.Ala593Thr | |
| ENST00000513604.5:c.*1186G>A | ENSP00000423111.1:n.*1186G>A | |
| ENST00000515425.5:c.1798G>A | ENSP00000423660.1:p.Ala600Thr | |
| NM_024577.3:c.1798G>A , LRG_269t1:c.1798G>A | NP_078853.2:p.Ala600Thr | |
| NM_024577.4:c.1798G>A MANE Select | NP_078853.2:p.Ala600Thr |