Linked Data
ClinVar Variation Id:
2135043
ClinVar RCV Id:
RCV003048436
dbSNP Id:
rs1772690090
gnomAD v3:
5-177992913-T-C
gnomAD v4:
5-177992913-T-C
MyVariant Identifiers:
chr5:g.177419914T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992913T>C , CM000667.2:g.177992913T>C | GRCh38 |
| NC_000005.9:g.177419914T>C , CM000667.1:g.177419914T>C | GRCh37 |
| NC_000005.8:g.177352520T>C | NCBI36 |
| NG_015889.1:g.8330A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.477A>G MANE Select | ENSP00000311290.2:p.Ala159= | |
| NM_006261.4:c.477A>G | NP_006252.3:p.Ala159= | |
| NM_006261.5:c.477A>G MANE Select | NP_006252.4:p.Ala159= |