Linked Data
ClinVar Variation Id:
9256
ClinVar RCV Id:
RCV000009838
dbSNP Id:
rs267607029
gnomAD v4:
19-35033828-G-A
PubMed:
PMID:18464934
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35033828G>A , CM000681.2:g.35033828G>A | GRCh38 |
| NC_000019.9:g.35524732G>A , CM000681.1:g.35524732G>A | GRCh37 |
| NC_000019.8:g.40216572G>A | NCBI36 |
| NG_013359.1:g.8141G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415950.5:c.537G>A | ENSP00000396915.2:p.Trp179Ter | |
| ENST00000262631.11:c.448+89G>A MANE Select | ENSP00000262631.3:n.448+89G>A | |
| ENST00000415950.4:c.537G>A | ENSP00000396915.2:p.Trp179Ter | |
| ENST00000596348.2:c.349+89G>A | ENSP00000492247.1:n.349+89G>A | |
| ENST00000638536.1:c.448+89G>A | ENSP00000492022.1:n.448+89G>A | |
| ENST00000640135.1:c.438G>A | ENSP00000492655.1:p.Trp146Ter | |
| ENST00000675741.1:c.349+89G>A | ENSP00000502395.1:n.349+89G>A | |
| ENST00000676410.1:c.349+89G>A | ENSP00000502717.1:n.349+89G>A | |
| ENST00000262631.9:c.448+89G>A | ENSP00000262631.3:n.448+89G>A | |
| ENST00000415950.3:c.537G>A | ENSP00000396915.2:p.Trp179Ter | |
| ENST00000595652.5:c.235+89G>A | ENSP00000468848.1:n.235+89G>A | |
| ENST00000596348.1:n.457+89G>A | ||
| NM_001037.4:c.448+89G>A | NP_001028.1:n.448+89G>A | |
| NM_199037.3:c.537G>A | NP_950238.1:p.Trp179Ter | |
| XM_005259144.1:c.349+89G>A | XP_005259201.1:n.349+89G>A | |
| NM_001321605.1:c.349+89G>A | NP_001308534.1:n.349+89G>A | |
| NM_199037.4:c.537G>A | NP_950238.1:p.Trp179Ter | |
| NM_001037.5:c.448+89G>A MANE Select | NP_001028.1:n.448+89G>A | |
| NM_001321605.2:c.349+89G>A | NP_001308534.1:n.349+89G>A | |
| NM_199037.5:c.537G>A | NP_950238.1:p.Trp179Ter |