Linked Data
ClinVar Variation Id:
328437
ClinVar RCV Id:
RCV000323417
dbSNP Id:
rs199782025
ExAC:
19:15651439 C / T
gnomAD v2:
19-15651439-C-T
gnomAD v3:
19-15540628-C-T
gnomAD v4:
19-15540628-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15540628C>T , CM000681.2:g.15540628C>T | GRCh38 |
| NC_000019.9:g.15651439C>T , CM000681.1:g.15651439C>T | GRCh37 |
| NC_000019.8:g.15512439C>T | NCBI36 |
| NG_007987.1:g.37104C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269703.8:c.850C>T MANE Select | ENSP00000269703.1:p.Arg284Trp | |
| ENST00000269703.7:c.850C>T | ENSP00000269703.1:p.Arg284Trp | |
| ENST00000601005.2:c.850C>T | ENSP00000469866.1:p.Arg284Trp | |
| NM_173483.3:c.850C>T | NP_775754.2:p.Arg284Trp | |
| XM_011527692.1:c.850C>T | XP_011525994.1:p.Arg284Trp | |
| XM_011527693.1:c.850C>T | XP_011525995.1:p.Arg284Trp | |
| XM_011527692.2:c.850C>T | XP_011525994.1:p.Arg284Trp | |
| XM_011527693.2:c.850C>T | XP_011525995.1:p.Arg284Trp | |
| NM_173483.4:c.850C>T MANE Select | NP_775754.2:p.Arg284Trp |