Linked Data
ClinVar Variation Id:
921217
ClinVar RCV Id:
RCV001180485
dbSNP Id:
rs1956588629
gnomAD v4:
12-32841189-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32841189C>A , CM000674.2:g.32841189C>A | GRCh38 |
| NC_000012.11:g.32994123C>A , CM000674.1:g.32994123C>A | GRCh37 |
| NC_000012.10:g.32885390C>A | NCBI36 |
| NG_009000.1:g.60658G>T , LRG_398:g.60658G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.1395G>T | ENSP00000515065.2:p.Leu465Phe | |
| ENST00000700563.2:c.1395G>T | ENSP00000515066.2:p.Leu465Phe | |
| ENST00000700559.1:c.610G>T | ||
| ENST00000700560.1:n.610G>T | ||
| ENST00000700561.1:n.736G>T | ||
| ENST00000700563.1:c.1349G>T | ||
| ENST00000700564.1:n.1399G>T | ||
| ENST00000700565.1:n.1248G>T | ||
| ENST00000070846.11:c.1527G>T | ENSP00000070846.6:p.Leu509Phe | |
| ENST00000340811.9:c.1395G>T MANE Select | ENSP00000342800.5:p.Leu465Phe | |
| ENST00000070846.10:c.1527G>T | ENSP00000070846.6:p.Leu509Phe | |
| ENST00000340811.8:c.1395G>T | ENSP00000342800.4:p.Leu465Phe | |
| ENST00000613243.1:c.1527G>T | ENSP00000478295.1:p.Leu509Phe | |
| NM_001005242.2:c.1395G>T | NP_001005242.2:p.Leu465Phe | |
| NM_004572.3:c.1527G>T , LRG_398t1:c.1527G>T | NP_004563.2:p.Leu509Phe | |
| NM_001005242.3:c.1395G>T MANE Select | NP_001005242.2:p.Leu465Phe | |
| NM_004572.4:c.1527G>T | NP_004563.2:p.Leu509Phe |