Linked Data
ClinVar Variation Id:
375219
ClinVar RCV Id:
RCV000416307
dbSNP Id:
rs1057519329
PubMed:
PMID:27647924
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58534476A>T , CM000665.2:g.58534476A>T | GRCh38 |
| NC_000003.11:g.58520203A>T , CM000665.1:g.58520203A>T | GRCh37 |
| NC_000003.10:g.58495243A>T | NCBI36 |
| NG_052668.1:g.7727T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302819.10:c.207T>A MANE Select | ENSP00000307697.5:p.Tyr69Ter | |
| ENST00000302819.9:c.207T>A | ENSP00000307697.5:p.Tyr69Ter | |
| ENST00000459701.6:c.207T>A | ENSP00000418562.2:p.Tyr69Ter | |
| ENST00000466689.1:n.441T>A | ||
| ENST00000474098.1:c.207T>A | ENSP00000419927.1:p.Tyr69Ter | |
| ENST00000475143.5:n.338+100T>A | ||
| ENST00000492530.1:c.152+14T>A | ||
| NM_003500.3:c.207T>A | NP_003491.1:p.Tyr69Ter | |
| XM_005265505.1:c.207T>A | XP_005265562.1:p.Tyr69Ter | |
| XM_005265506.2:c.-4T>A | XP_005265563.1:n.-4T>A | |
| XM_006713340.2:c.29+100T>A | XP_006713403.1:n.29+100T>A | |
| XM_011534147.1:c.372T>A | XP_011532449.1:p.Tyr124Ter | |
| XM_011534148.1:c.29+100T>A | XP_011532450.1:n.29+100T>A | |
| XM_006713340.3:c.29+100T>A | XP_006713403.1:n.29+100T>A | |
| XM_017007302.2:c.-4T>A | XP_016862791.1:n.-4T>A | |
| XM_024453786.1:c.-4T>A | XP_024309554.1:n.-4T>A | |
| NM_003500.4:c.207T>A MANE Select | NP_003491.1:p.Tyr69Ter |