Linked Data
ClinVar Variation Id:
375404
ClinVar RCV Id:
RCV000416448
dbSNP Id:
rs1057519457
gnomAD v4:
19-35033599-A-T
PubMed:
PMID:28327206
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35033599A>T , CM000681.2:g.35033599A>T | GRCh38 |
| NC_000019.9:g.35524503A>T , CM000681.1:g.35524503A>T | GRCh37 |
| NC_000019.8:g.40216343A>T | NCBI36 |
| NG_013359.1:g.7912A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415950.5:c.308A>T | ENSP00000396915.2:p.Asp103Val | |
| ENST00000262631.11:c.308A>T MANE Select | ENSP00000262631.3:p.Asp103Val | |
| ENST00000415950.4:c.308A>T | ENSP00000396915.2:p.Asp103Val | |
| ENST00000596348.2:c.209A>T | ENSP00000492247.1:p.Asp70Val | |
| ENST00000638536.1:c.308A>T | ENSP00000492022.1:p.Asp103Val | |
| ENST00000640135.1:c.209A>T | ENSP00000492655.1:p.Asp70Val | |
| ENST00000675741.1:c.209A>T | ENSP00000502395.1:p.Asp70Val | |
| ENST00000676410.1:c.209A>T | ENSP00000502717.1:p.Asp70Val | |
| ENST00000262631.9:c.308A>T | ENSP00000262631.3:p.Asp103Val | |
| ENST00000415950.3:c.308A>T | ENSP00000396915.2:p.Asp103Val | |
| ENST00000595652.5:c.208-113A>T | ENSP00000468848.1:n.208-113A>T | |
| ENST00000596348.1:n.317A>T | ||
| NM_001037.4:c.308A>T | NP_001028.1:p.Asp103Val | |
| NM_199037.3:c.308A>T | NP_950238.1:p.Asp103Val | |
| XM_005259144.1:c.209A>T | XP_005259201.1:p.Asp70Val | |
| NM_001321605.1:c.209A>T | NP_001308534.1:p.Asp70Val | |
| NM_199037.4:c.308A>T | NP_950238.1:p.Asp103Val | |
| NM_001037.5:c.308A>T MANE Select | NP_001028.1:p.Asp103Val | |
| NM_001321605.2:c.209A>T | NP_001308534.1:p.Asp70Val | |
| NM_199037.5:c.308A>T | NP_950238.1:p.Asp103Val |