Linked Data
ClinVar Variation Id:
424295
dbSNP Id:
rs377360750
ExAC:
2:73680096 C / A
gnomAD v2:
2-73680096-C-A
gnomAD v3:
2-73452969-C-A
gnomAD v4:
2-73452969-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73452969C>A , CM000664.2:g.73452969C>A | GRCh38 |
| NC_000002.11:g.73680096C>A , CM000664.1:g.73680096C>A | GRCh37 |
| NC_000002.10:g.73533604C>A | NCBI36 |
| NG_011690.1:g.72217C>A , LRG_741:g.72217C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.6061C>A | ENSP00000507671.1:p.Pro2021Thr | |
| ENST00000682801.1:c.6061C>A | ENSP00000507862.1:p.Pro2021Thr | |
| ENST00000682859.1:c.6061C>A | ENSP00000508222.1:p.Pro2021Thr | |
| ENST00000683791.1:c.685+20678C>A | ||
| ENST00000684197.1:n.1411C>A | ||
| ENST00000684460.1:c.3513C>A | ||
| ENST00000684548.1:c.6061C>A | ENSP00000507421.1:p.Pro2021Thr | |
| ENST00000684590.1:c.559C>A | ENSP00000507376.1:p.Pro187Thr | |
| ENST00000684656.1:c.3513C>A | ||
| ENST00000613296.6:c.6442C>A MANE Select | ENSP00000482968.1:p.Pro2148Thr | |
| ENST00000423048.5:c.1273C>A | ENSP00000399833.1:p.Pro425Thr | |
| ENST00000484298.5:c.6316C>A | ENSP00000478155.1:p.Pro2106Thr | |
| ENST00000613296.4:c.6442C>A | ENSP00000482968.1:p.Pro2148Thr | |
| ENST00000614410.4:c.6442C>A | ENSP00000479094.1:p.Pro2148Thr | |
| ENST00000620466.4:n.245C>A | ||
| NM_015120.4:c.6445C>A , LRG_741t1:c.6445C>A | NP_055935.4:p.Pro2149Thr | |
| NM_001378454.1:c.6442C>A MANE Select | NP_001365383.1:p.Pro2148Thr |