Linked Data
ClinVar Variation Id:
268130
dbSNP Id:
rs142094773
ExAC:
19:11488725 G / A
gnomAD v2:
19-11488725-G-A
gnomAD v3:
19-11378049-G-A
gnomAD v4:
19-11378049-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11378049G>A , CM000681.2:g.11378049G>A | GRCh38 |
| NC_000019.9:g.11488725G>A , CM000681.1:g.11488725G>A | GRCh37 |
| NC_000019.8:g.11349725G>A | NCBI36 |
| NG_021395.1:g.11294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222139.11:c.1462C>T MANE Select | ENSP00000222139.5:p.Pro488Ser | |
| ENST00000222139.10:c.1462C>T | ENSP00000222139.5:p.Pro488Ser | |
| ENST00000586890.5:c.*1205C>T | ENSP00000467230.1:n.*1205C>T | |
| ENST00000588681.5:n.1847C>T | ||
| ENST00000588859.5:c.*1205C>T | ENSP00000466784.1:n.*1205C>T | |
| ENST00000591958.5:c.*840C>T | ENSP00000468187.1:n.*840C>T | |
| ENST00000592375.6:c.*570C>T | ENSP00000467809.2:n.*570C>T | |
| NM_000121.3:c.1462C>T | NP_000112.1:p.Pro488Ser | |
| NR_033663.1:n.1847C>T | ||
| NM_000121.4:c.1462C>T MANE Select | NP_000112.1:p.Pro488Ser | |
| NR_033663.2:n.1819C>T |