Linked Data
ClinVar Variation Id:
1615773
ClinVar RCV Id:
RCV002081705
dbSNP Id:
rs1409403464
gnomAD v2:
15-90631630-G-A
gnomAD v3:
15-90088398-G-A
gnomAD v4:
15-90088398-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088398G>A , CM000677.2:g.90088398G>A | GRCh38 |
| NC_000015.9:g.90631630G>A , CM000677.1:g.90631630G>A | GRCh37 |
| NC_000015.8:g.88432634G>A | NCBI36 |
| NG_023302.1:g.19079C>T , LRG_611:g.19079C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.639C>T MANE Select | ENSP00000331897.4:p.Pro213= | |
| ENST00000330062.7:c.639C>T | ENSP00000331897.3:p.Pro213= | |
| ENST00000540499.2:c.483C>T | ENSP00000446147.2:p.Pro161= | |
| ENST00000559482.5:c.312C>T | ENSP00000453016.1:p.Pro104= | |
| ENST00000560061.1:c.*264C>T | ENSP00000453254.1:n.*264C>T | |
| NM_001289910.1:c.483C>T , LRG_611t1:c.483C>T | NP_001276839.1:p.Pro161= | |
| NM_001290114.1:c.249C>T | NP_001277043.1:p.Pro83= | |
| NM_002168.3:c.639C>T , LRG_611t2:c.639C>T | NP_002159.2:p.Pro213= | |
| NM_001290114.2:c.249C>T | NP_001277043.1:p.Pro83= | |
| NM_002168.4:c.639C>T MANE Select | NP_002159.2:p.Pro213= |