Linked Data
dbSNP Id:
rs373875274
ExAC:
16:4849642 A / C
gnomAD v2:
16-4849642-A-C
gnomAD v3:
16-4799641-A-C
gnomAD v4:
16-4799641-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799641A>C , CM000678.2:g.4799641A>C | GRCh38 |
| NC_000016.9:g.4849642A>C , CM000678.1:g.4849642A>C | GRCh37 |
| NC_000016.8:g.4789643A>C | NCBI36 |
| NG_032174.1:g.8310T>G , LRG_455:g.8310T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.432+45T>G MANE Select | ENSP00000322832.6:n.432+45T>G | |
| ENST00000322048.11:c.432+45T>G | ENSP00000322832.5:n.432+45T>G | |
| ENST00000585653.1:n.564+45T>G | ||
| ENST00000586153.1:c.177+45T>G | ENSP00000464699.1:n.177+45T>G | |
| ENST00000586336.5:n.531+45T>G | ||
| ENST00000586504.5:c.212+45T>G | ||
| ENST00000587377.5:c.423+54T>G | ENSP00000468343.1:n.423+54T>G | |
| ENST00000587711.5:c.118-974T>G | ENSP00000467459.1:n.118-974T>G | |
| ENST00000587843.5:c.*170+45T>G | ENSP00000465970.1:n.*170+45T>G | |
| ENST00000588201.5:c.*289+45T>G | ENSP00000466529.1:n.*289+45T>G | |
| ENST00000589543.5:n.389+45T>G | ||
| ENST00000591292.5:n.1761+45T>G | ||
| ENST00000591392.5:c.360+45T>G | ENSP00000467509.1:n.360+45T>G | |
| ENST00000592019.1:c.76+120T>G | ||
| NM_024589.2:c.432+45T>G , LRG_455t1:c.432+45T>G | NP_078865.1:n.432+45T>G | |
| NR_046480.1:n.756+45T>G | ||
| XM_006720947.2:c.432+45T>G | XP_006721010.1:n.432+45T>G | |
| XM_006720948.2:c.162+45T>G | XP_006721011.1:n.162+45T>G | |
| XM_006720947.4:c.432+45T>G | XP_006721010.1:n.432+45T>G | |
| XM_006720948.4:c.162+45T>G | XP_006721011.1:n.162+45T>G | |
| NM_024589.3:c.432+45T>G MANE Select | NP_078865.1:n.432+45T>G | |
| NR_046480.2:n.439+45T>G |