Linked Data
ClinVar Variation Id:
3071695
ClinVar RCV Id:
RCV004016189
dbSNP Id:
rs939784046
gnomAD v4:
15-48503894-T-A
COSMIC:
COSM6218699
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48503894T>A , CM000677.2:g.48503894T>A | GRCh38 |
| NC_000015.9:g.48796091T>A , CM000677.1:g.48796091T>A | GRCh37 |
| NC_000015.8:g.46583383T>A | NCBI36 |
| NG_008805.2:g.146895A>T , LRG_778:g.146895A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.2006A>T | ENSP00000453958.2:p.Gln669Leu | |
| ENST00000674301.2:c.2006A>T | ENSP00000501333.2:p.Gln669Leu | |
| ENST00000684448.1:n.680A>T | ||
| ENST00000316623.10:c.2006A>T MANE Select | ENSP00000325527.5:p.Gln669Leu | |
| ENST00000316623.9:c.2006A>T | ENSP00000325527.5:p.Gln669Leu | |
| ENST00000537463.6:c.637-29244A>T | ENSP00000440294.2:n.637-29244A>T | |
| NM_000138.4:c.2006A>T , LRG_778t1:c.2006A>T | NP_000129.3:p.Gln669Leu | |
| NM_000138.5:c.2006A>T MANE Select | NP_000129.3:p.Gln669Leu |