Linked Data
dbSNP Id:
rs753269101
ExAC:
3:93615525 A / G
gnomAD v2:
3-93615525-A-G
gnomAD v4:
3-93896681-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93896681A>G , CM000665.2:g.93896681A>G | GRCh38 |
| NC_000003.11:g.93615525A>G , CM000665.1:g.93615525A>G | GRCh37 |
| NC_000003.10:g.95098215A>G | NCBI36 |
| NG_009813.1:g.82410T>C , LRG_572:g.82410T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.860T>C | ENSP00000330021.7:p.Val287Ala | |
| ENST00000394236.9:c.860T>C MANE Select | ENSP00000377783.3:p.Val287Ala | |
| ENST00000407433.6:c.815T>C | ENSP00000385794.2:p.Val272Ala | |
| ENST00000647936.1:c.860T>C | ENSP00000496822.1:p.Val287Ala | |
| ENST00000648381.1:n.1028T>C | ||
| ENST00000648853.1:c.818T>C | ENSP00000497262.1:p.Val273Ala | |
| ENST00000649103.1:c.959T>C | ENSP00000497962.1:n.959T>C | |
| ENST00000650591.1:c.956T>C | ENSP00000497376.1:p.Val319Ala | |
| ENST00000394236.7:c.860T>C | ENSP00000377783.3:p.Val287Ala | |
| ENST00000407433.5:c.467T>C | ENSP00000385794.1:p.Val156Ala | |
| NM_000313.3:c.860T>C , LRG_572t1:c.860T>C | NP_000304.2:p.Val287Ala | |
| NM_001314077.1:c.956T>C , LRG_572t2:c.956T>C | NP_001301006.1:p.Val319Ala | |
| NM_000313.4:c.860T>C MANE Select | NP_000304.2:p.Val287Ala | |
| NM_001314077.2:c.956T>C | NP_001301006.1:p.Val319Ala |