Linked Data
dbSNP Id:
rs138925964
ExAC:
3:93598123 C / G
gnomAD v2:
3-93598123-C-G
gnomAD v3:
3-93879279-C-G
gnomAD v4:
3-93879279-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93879279C>G , CM000665.2:g.93879279C>G | GRCh38 |
| NC_000003.11:g.93598123C>G , CM000665.1:g.93598123C>G | GRCh37 |
| NC_000003.10:g.95080813C>G | NCBI36 |
| NG_009813.1:g.99812G>C , LRG_572:g.99812G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.1528G>C | ENSP00000330021.7:p.Val510Leu | |
| ENST00000394236.9:c.1528G>C MANE Select | ENSP00000377783.3:p.Val510Leu | |
| ENST00000407433.6:c.1483G>C | ENSP00000385794.2:p.Val495Leu | |
| ENST00000647936.1:c.1528G>C | ENSP00000496822.1:p.Val510Leu | |
| ENST00000648381.1:n.1696G>C | ||
| ENST00000648853.1:c.1486G>C | ENSP00000497262.1:p.Val496Leu | |
| ENST00000649103.1:c.1627G>C | ENSP00000497962.1:n.1627G>C | |
| ENST00000649585.1:c.471G>C | ENSP00000498163.1:n.471G>C | |
| ENST00000650591.1:c.1624G>C | ENSP00000497376.1:p.Val542Leu | |
| ENST00000394236.7:c.1528G>C | ENSP00000377783.3:p.Val510Leu | |
| ENST00000407433.5:c.1135G>C | ENSP00000385794.1:p.Val379Leu | |
| NM_000313.3:c.1528G>C , LRG_572t1:c.1528G>C | NP_000304.2:p.Val510Leu | |
| NM_001314077.1:c.1624G>C , LRG_572t2:c.1624G>C | NP_001301006.1:p.Val542Leu | |
| NM_000313.4:c.1528G>C MANE Select | NP_000304.2:p.Val510Leu | |
| NM_001314077.2:c.1624G>C | NP_001301006.1:p.Val542Leu |