Linked Data
ClinVar Variation Id:
656590
dbSNP Id:
rs770344365
ExAC:
19:35524770 C / T
gnomAD v2:
19-35524770-C-T
gnomAD v3:
19-35033866-C-T
gnomAD v4:
19-35033866-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35033866C>T , CM000681.2:g.35033866C>T | GRCh38 |
| NC_000019.9:g.35524770C>T , CM000681.1:g.35524770C>T | GRCh37 |
| NC_000019.8:g.40216610C>T | NCBI36 |
| NG_013359.1:g.8179C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415950.5:c.575C>T | ENSP00000396915.2:p.Ala192Val | |
| ENST00000262631.11:c.448+127C>T MANE Select | ENSP00000262631.3:n.448+127C>T | |
| ENST00000415950.4:c.575C>T | ENSP00000396915.2:p.Ala192Val | |
| ENST00000596348.2:c.349+127C>T | ENSP00000492247.1:n.349+127C>T | |
| ENST00000638536.1:c.448+127C>T | ENSP00000492022.1:n.448+127C>T | |
| ENST00000640135.1:c.476C>T | ENSP00000492655.1:p.Ala159Val | |
| ENST00000675741.1:c.349+127C>T | ENSP00000502395.1:n.349+127C>T | |
| ENST00000676410.1:c.349+127C>T | ENSP00000502717.1:n.349+127C>T | |
| ENST00000262631.9:c.448+127C>T | ENSP00000262631.3:n.448+127C>T | |
| ENST00000415950.3:c.575C>T | ENSP00000396915.2:p.Ala192Val | |
| ENST00000595652.5:c.235+127C>T | ENSP00000468848.1:n.235+127C>T | |
| ENST00000596348.1:n.457+127C>T | ||
| NM_001037.4:c.448+127C>T | NP_001028.1:n.448+127C>T | |
| NM_199037.3:c.575C>T | NP_950238.1:p.Ala192Val | |
| XM_005259144.1:c.349+127C>T | XP_005259201.1:n.349+127C>T | |
| NM_001321605.1:c.349+127C>T | NP_001308534.1:n.349+127C>T | |
| NM_199037.4:c.575C>T | NP_950238.1:p.Ala192Val | |
| NM_001037.5:c.448+127C>T MANE Select | NP_001028.1:n.448+127C>T | |
| NM_001321605.2:c.349+127C>T | NP_001308534.1:n.349+127C>T | |
| NM_199037.5:c.575C>T | NP_950238.1:p.Ala192Val |