Linked Data
ClinVar Variation Id:
1045630
ClinVar RCV Id:
RCV001350075
dbSNP Id:
rs2093585998
gnomAD v4:
19-4816682-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816682G>T , CM000681.2:g.4816682G>T | GRCh38 |
| NC_000019.9:g.4816694G>T , CM000681.1:g.4816694G>T | GRCh37 |
| NC_000019.8:g.4767694G>T | NCBI36 |
| NG_031998.1:g.20061C>A , LRG_358:g.20061C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1696C>A MANE Select | ENSP00000248244.4:p.Leu566Met | |
| ENST00000248244.5:c.1696C>A | ENSP00000248244.4:p.Leu566Met | |
| ENST00000621756.1:c.1279C>A | ENSP00000479467.1:p.Leu427Met | |
| NM_182919.3:c.1696C>A , LRG_358t1:c.1696C>A | NP_891549.1:p.Leu566Met | |
| NM_001385678.1:c.1654C>A | NP_001372607.1:p.Leu552Met | |
| NM_001385679.1:c.1561C>A | NP_001372608.1:p.Leu521Met | |
| NM_001385680.1:c.1054C>A | NP_001372609.1:p.Leu352Met | |
| NM_182919.4:c.1696C>A MANE Select | NP_891549.1:p.Leu566Met |