Linked Data
ClinVar Variation Id:
1146419
ClinVar RCV Id:
RCV001485641
dbSNP Id:
rs148402706
ExAC:
19:15636215 C / T
gnomAD v2:
19-15636215-C-T
gnomAD v3:
19-15525404-C-T
gnomAD v4:
19-15525404-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15525404C>T , CM000681.2:g.15525404C>T | GRCh38 |
| NC_000019.9:g.15636215C>T , CM000681.1:g.15636215C>T | GRCh37 |
| NC_000019.8:g.15497215C>T | NCBI36 |
| NG_007987.1:g.21880C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269703.8:c.68C>T MANE Select | ENSP00000269703.1:p.Ala23Val | |
| ENST00000269703.7:c.68C>T | ENSP00000269703.1:p.Ala23Val | |
| ENST00000601005.2:c.68C>T | ENSP00000469866.1:p.Ala23Val | |
| NM_173483.3:c.68C>T | NP_775754.2:p.Ala23Val | |
| XM_011527692.1:c.68C>T | XP_011525994.1:p.Ala23Val | |
| XM_011527693.1:c.68C>T | XP_011525995.1:p.Ala23Val | |
| XM_011527692.2:c.68C>T | XP_011525994.1:p.Ala23Val | |
| XM_011527693.2:c.68C>T | XP_011525995.1:p.Ala23Val | |
| NM_173483.4:c.68C>T MANE Select | NP_775754.2:p.Ala23Val |