Linked Data
ClinVar Variation Id:
1763601
ClinVar RCV Id:
RCV002447685
dbSNP Id:
rs954301448
gnomAD v2:
19-45412402-C-T
gnomAD v3:
19-44909145-C-T
gnomAD v4:
19-44909145-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44909145C>T , CM000681.2:g.44909145C>T | GRCh38 |
| NC_000019.9:g.45412402C>T , CM000681.1:g.45412402C>T | GRCh37 |
| NC_000019.8:g.50104242C>T | NCBI36 |
| NG_007084.2:g.8364C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252486.9:c.849C>T MANE Select | ENSP00000252486.3:p.Phe283= | |
| ENST00000252486.8:c.849C>T | ENSP00000252486.3:p.Phe283= | |
| NM_000041.3:c.849C>T | NP_000032.1:p.Phe283= | |
| NM_001302688.1:c.927C>T | NP_001289617.1:p.Phe309= | |
| NM_001302689.1:c.849C>T | NP_001289618.1:p.Phe283= | |
| NM_001302690.1:c.849C>T | NP_001289619.1:p.Phe283= | |
| NM_001302691.1:c.849C>T | NP_001289620.1:p.Phe283= | |
| NM_000041.4:c.849C>T MANE Select | NP_000032.1:p.Phe283= | |
| NM_001302688.2:c.927C>T | NP_001289617.1:p.Phe309= | |
| NM_001302689.2:c.849C>T | NP_001289618.1:p.Phe283= | |
| NM_001302691.2:c.849C>T | NP_001289620.1:p.Phe283= | |
| NM_001302690.2:c.849C>T | NP_001289619.1:p.Phe283= |