Linked Data
ClinVar Variation Id:
1969126
ClinVar RCV Id:
RCV002755351
dbSNP Id:
rs2149559564
gnomAD v4:
5-135029067-G-A
MyVariant Identifiers:
chr5:g.134364757G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135029067G>A , CM000667.2:g.135029067G>A | GRCh38 |
| NC_000005.9:g.134364757G>A , CM000667.1:g.134364757G>A | GRCh37 |
| NC_000005.8:g.134392656G>A | NCBI36 |
| NG_012114.1:g.10208C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.657C>T MANE Select | ENSP00000265340.6:p.Ser219= | |
| ENST00000265340.11:c.657C>T | ENSP00000265340.6:p.Ser219= | |
| ENST00000506438.5:c.657C>T | ENSP00000427542.1:p.Ser219= | |
| NM_002653.4:c.657C>T | NP_002644.4:p.Ser219= | |
| NM_002653.5:c.657C>T MANE Select | NP_002644.4:p.Ser219= |