Linked Data
ClinVar Variation Id:
2932429
ClinVar RCV Id:
RCV003795643
dbSNP Id:
rs374294752
gnomAD v3:
7-128849349-G-T
gnomAD v4:
7-128849349-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128849349G>T , CM000669.2:g.128849349G>T | GRCh38 |
| NC_000007.13:g.128489403G>T , CM000669.1:g.128489403G>T | GRCh37 |
| NC_000007.12:g.128276639G>T | NCBI36 |
| NG_011807.1:g.23921G>T , LRG_870:g.23921G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.4970G>T MANE Select | ENSP00000327145.8:p.Arg1657Leu | |
| ENST00000325888.12:c.4970G>T | ENSP00000327145.8:p.Arg1657Leu | |
| ENST00000346177.6:c.4970G>T | ENSP00000344002.6:p.Arg1657Leu | |
| NM_001127487.1:c.4970G>T | NP_001120959.1:p.Arg1657Leu | |
| NM_001458.4:c.4970G>T , LRG_870t1:c.4970G>T | NP_001449.3:p.Arg1657Leu | |
| NM_001127487.2:c.4970G>T | NP_001120959.1:p.Arg1657Leu | |
| NM_001458.5:c.4970G>T MANE Select | NP_001449.3:p.Arg1657Leu |