Linked Data
ClinVar Variation Id:
916972
ClinVar RCV Id:
RCV001173201
dbSNP Id:
rs1754092804
gnomAD v4:
5-149027548-G-T
MyVariant Identifiers:
chr5:g.148407111G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027548G>T , CM000667.2:g.149027548G>T | GRCh38 |
| NC_000005.9:g.148407111G>T , CM000667.1:g.148407111G>T | GRCh37 |
| NC_000005.8:g.148387304G>T | NCBI36 |
| NG_007947.2:g.40627C>A , LRG_269:g.40627C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502274.2:c.2080C>A | ||
| ENST00000515425.6:c.2184C>A MANE Select | ENSP00000423660.1:p.Gly728= | |
| ENST00000675793.1:c.*1468C>A | ENSP00000502039.1:n.*1468C>A | |
| ENST00000676056.1:c.*1694C>A | ENSP00000501827.1:n.*1694C>A | |
| ENST00000323829.9:c.*1572C>A | ENSP00000313025.5:n.*1572C>A | |
| ENST00000504517.5:c.1714C>A | ENSP00000421779.1:n.1714C>A | |
| ENST00000504690.5:c.2184C>A | ENSP00000425627.1:p.Gly728= | |
| ENST00000510779.1:c.1234C>A | ||
| ENST00000511307.5:c.*1964C>A | ENSP00000421420.1:n.*1964C>A | |
| ENST00000512049.5:c.2163C>A | ENSP00000421860.1:p.Gly721= | |
| ENST00000513604.5:c.*1572C>A | ENSP00000423111.1:n.*1572C>A | |
| ENST00000515425.5:c.2184C>A | ENSP00000423660.1:p.Gly728= | |
| NM_024577.3:c.2184C>A , LRG_269t1:c.2184C>A | NP_078853.2:p.Gly728= | |
| NM_024577.4:c.2184C>A MANE Select | NP_078853.2:p.Gly728= |