Linked Data
ClinVar Variation Id:
189118
ClinVar RCV Id:
RCV000169531
dbSNP Id:
rs786204715
gnomAD v4:
19-12658428-C-T
PubMed:
PMID:22161967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12658428C>T , CM000681.2:g.12658428C>T | GRCh38 |
| NC_000019.9:g.12769242C>T , CM000681.1:g.12769242C>T | GRCh37 |
| NC_000019.8:g.12630242C>T | NCBI36 |
| NG_008318.1:g.13350G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.1109G>A MANE Select | ENSP00000395473.2:p.Trp370Ter | |
| ENST00000221363.8:c.1106G>A | ENSP00000221363.4:p.Trp369Ter | |
| ENST00000456935.6:c.1109G>A | ENSP00000395473.2:p.Trp370Ter | |
| ENST00000465830.1:n.190G>A | ||
| ENST00000466794.5:n.1009-84G>A | ||
| ENST00000495617.1:n.280+303G>A | ||
| NM_000528.3:c.1109G>A | NP_000519.2:p.Trp370Ter | |
| NM_001173498.1:c.1106G>A | NP_001166969.1:p.Trp369Ter | |
| XM_005259913.1:c.1112G>A | XP_005259970.1:p.Trp371Ter | |
| XM_011528017.1:c.9-84G>A | XP_011526319.1:n.9-84G>A | |
| XM_005259913.2:c.1112G>A | XP_005259970.1:p.Trp371Ter | |
| XM_024451518.1:c.9-84G>A | XP_024307286.1:n.9-84G>A | |
| NM_000528.4:c.1109G>A MANE Select | NP_000519.2:p.Trp370Ter | |
| NM_001173498.2:c.1106G>A | NP_001166969.1:p.Trp369Ter |