Linked Data
dbSNP Id:
rs557399037
gnomAD v3:
4-186285659-G-A
gnomAD v4:
4-186285659-G-A
COSMIC:
COSM244331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186285659G>A , CM000666.2:g.186285659G>A | GRCh38 |
| NC_000004.11:g.187206813G>A , CM000666.1:g.187206813G>A | GRCh37 |
| NC_000004.10:g.187443807G>A | NCBI36 |
| NG_008051.1:g.24696G>A , LRG_583:g.24696G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1326G>A MANE Select | ENSP00000384957.2:p.Leu442= | |
| ENST00000264691.4:c.22G>A | ||
| ENST00000264692.8:c.1164G>A | ENSP00000264692.5:p.Leu388= | |
| ENST00000403665.6:c.1326G>A | ENSP00000384957.2:p.Leu442= | |
| NM_000128.3:c.1326G>A , LRG_583t1:c.1326G>A | NP_000119.1:p.Leu442= | |
| XM_005262821.2:c.1329G>A | XP_005262878.1:p.Leu443= | |
| XM_005262822.2:c.1329G>A | XP_005262879.1:p.Leu443= | |
| XM_005262823.2:c.1059G>A | XP_005262880.1:p.Leu353= | |
| XM_005262824.1:c.1329G>A | XP_005262881.1:p.Leu443= | |
| XM_006714137.1:c.1281G>A | XP_006714200.1:p.Leu427= | |
| XR_938706.1:n.1734G>A | ||
| XR_938707.1:n.1734G>A | ||
| XM_005262821.4:c.1329G>A | XP_005262878.1:p.Leu443= | |
| XM_005262822.4:c.1329G>A | XP_005262879.1:p.Leu443= | |
| XM_005262823.4:c.1059G>A | XP_005262880.1:p.Leu353= | |
| XM_006714137.3:c.1281G>A | XP_006714200.1:p.Leu427= | |
| XR_001741172.2:n.1800G>A | ||
| NM_000128.4:c.1326G>A MANE Select | NP_000119.1:p.Leu442= |