Linked Data
ClinVar Variation Id:
13320
ClinVar RCV Id:
RCV000014248
dbSNP Id:
rs267606981
gnomAD v4:
3-93874245-T-A
PubMed:
PMID:8113388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93874245T>A , CM000665.2:g.93874245T>A | GRCh38 |
| NC_000003.11:g.93593089T>A , CM000665.1:g.93593089T>A | GRCh37 |
| NC_000003.10:g.95075779T>A | NCBI36 |
| NG_009813.1:g.104846A>T , LRG_572:g.104846A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.2031A>T | ENSP00000330021.7:p.Ter677Tyr | |
| ENST00000394236.9:c.2031A>T MANE Select | ENSP00000377783.3:p.Ter677Tyr | |
| ENST00000407433.6:c.1986A>T | ENSP00000385794.2:p.Ter662Tyr | |
| ENST00000647936.1:c.*134A>T | ENSP00000496822.1:n.*134A>T | |
| ENST00000648381.1:n.2199A>T | ||
| ENST00000648853.1:c.1989A>T | ENSP00000497262.1:p.Ter663Tyr | |
| ENST00000650591.1:c.2127A>T | ENSP00000497376.1:p.Ter709Tyr | |
| ENST00000394236.7:c.2031A>T | ENSP00000377783.3:p.Ter677Tyr | |
| ENST00000407433.5:c.1638A>T | ENSP00000385794.1:p.Ter546Tyr | |
| NM_000313.3:c.2031A>T , LRG_572t1:c.2031A>T | NP_000304.2:p.Ter677Tyr | |
| NM_001314077.1:c.2127A>T , LRG_572t2:c.2127A>T | NP_001301006.1:p.Ter709Tyr | |
| NM_000313.4:c.2031A>T MANE Select | NP_000304.2:p.Ter677Tyr | |
| NM_001314077.2:c.2127A>T | NP_001301006.1:p.Ter709Tyr |