Linked Data
ClinVar Variation Id:
30753
ClinVar RCV Id:
RCV000023732
dbSNP Id:
rs387906999
gnomAD v4:
19-3589910-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3589910T>G , CM000681.2:g.3589910T>G | GRCh38 |
| NC_000019.9:g.3589908T>G , CM000681.1:g.3589908T>G | GRCh37 |
| NC_000019.8:g.3540908T>G | NCBI36 |
| NG_031943.1:g.9340T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644452.3:c.785T>G MANE Select | ENSP00000493901.2:p.Leu262Arg | |
| ENST00000644946.1:c.785T>G | ENSP00000495068.1:p.Leu262Arg | |
| ENST00000322315.5:c.785T>G | ENSP00000319254.5:p.Leu262Arg | |
| NM_133261.2:c.785T>G | NP_573568.1:p.Leu262Arg | |
| XM_005259492.2:c.785T>G | XP_005259549.1:p.Leu262Arg | |
| XM_005259492.3:c.785T>G | XP_005259549.1:p.Leu262Arg | |
| NM_133261.3:c.785T>G MANE Select | NP_573568.1:p.Leu262Arg |