Linked Data
dbSNP Id:
rs752089137
ExAC:
16:4847959 C / T
gnomAD v2:
16-4847959-C-T
gnomAD v4:
16-4797958-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797958C>T , CM000678.2:g.4797958C>T | GRCh38 |
| NC_000016.9:g.4847959C>T , CM000678.1:g.4847959C>T | GRCh37 |
| NC_000016.8:g.4787960C>T | NCBI36 |
| NG_032174.1:g.9993G>A , LRG_455:g.9993G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.675G>A MANE Select | ENSP00000322832.6:p.Leu225= | |
| ENST00000322048.11:c.675G>A | ENSP00000322832.5:p.Leu225= | |
| ENST00000586153.1:c.321G>A | ENSP00000464699.1:p.Leu107= | |
| ENST00000586336.5:n.774G>A | ||
| ENST00000586504.5:c.425+113G>A | ||
| ENST00000587377.5:c.688G>A | ENSP00000468343.1:p.Ala230Thr | |
| ENST00000587711.5:c.360G>A | ENSP00000467459.1:p.Leu120= | |
| ENST00000587843.5:c.*413G>A | ENSP00000465970.1:n.*413G>A | |
| ENST00000588201.5:c.*666G>A | ENSP00000466529.1:n.*666G>A | |
| ENST00000589543.5:n.632G>A | ||
| ENST00000591292.5:n.2004G>A | ||
| ENST00000591392.5:c.603G>A | ENSP00000467509.1:p.Leu201= | |
| ENST00000592019.1:c.77-143G>A | ||
| NM_024589.2:c.675G>A , LRG_455t1:c.675G>A | NP_078865.1:p.Leu225= | |
| NR_046480.1:n.999G>A | ||
| XM_006720947.2:c.675G>A | XP_006721010.1:p.Leu225= | |
| XM_006720948.2:c.405G>A | XP_006721011.1:p.Leu135= | |
| XM_006720947.4:c.675G>A | XP_006721010.1:p.Leu225= | |
| XM_006720948.4:c.405G>A | XP_006721011.1:p.Leu135= | |
| NM_024589.3:c.675G>A MANE Select | NP_078865.1:p.Leu225= | |
| NR_046480.2:n.682G>A |