Linked Data
dbSNP Id:
rs1715588812
gnomAD v3:
3-150972517-C-T
gnomAD v4:
3-150972517-C-T
MyVariant Identifiers:
chr3:g.150690304C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972517C>T , CM000665.2:g.150972517C>T | GRCh38 |
| NC_000003.11:g.150690304C>T , CM000665.1:g.150690304C>T | GRCh37 |
| NC_000003.10:g.152172994C>T | NCBI36 |
| NG_009168.1:g.5483G>A , LRG_700:g.5483G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.192G>A MANE Select | ENSP00000322280.1:p.Gly64= | |
| ENST00000468836.2:c.168G>A | ENSP00000419892.2:p.Gly56= | |
| ENST00000644099.1:c.33G>A | ENSP00000494762.1:p.Gly11= | |
| ENST00000645441.1:c.34G>A | ||
| ENST00000327047.5:c.192G>A | ENSP00000322280.1:p.Gly64= | |
| ENST00000328863.8:c.192G>A | ENSP00000329158.4:p.Gly64= | |
| ENST00000468836.1:c.-209G>A | ENSP00000419892.1:n.-209G>A | |
| ENST00000472224.1:n.198G>A | ||
| NM_001195794.1:c.192G>A , LRG_700t1:c.192G>A | NP_001182723.1:p.Gly64= | |
| NM_001256819.1:c.192G>A | NP_001243748.1:p.Gly64= | |
| NM_174878.2:c.192G>A | NP_777367.1:p.Gly64= | |
| NR_046380.2:n.483G>A | ||
| XR_924167.1:n.504G>A | ||
| NM_001256819.2:c.192G>A | NP_001243748.1:p.Gly64= | |
| NM_174878.3:c.192G>A MANE Select | NP_777367.1:p.Gly64= | |
| NR_046380.3:n.211G>A |