Linked Data
ClinVar Variation Id:
416250
dbSNP Id:
rs376868221
ExAC:
16:4847707 G / A
gnomAD v2:
16-4847707-G-A
gnomAD v3:
16-4797706-G-A
gnomAD v4:
16-4797706-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797706G>A , CM000678.2:g.4797706G>A | GRCh38 |
| NC_000016.9:g.4847707G>A , CM000678.1:g.4847707G>A | GRCh37 |
| NC_000016.8:g.4787708G>A | NCBI36 |
| NG_032174.1:g.10245C>T , LRG_455:g.10245C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.822+8C>T MANE Select | ENSP00000322832.6:n.822+8C>T | |
| ENST00000322048.11:c.822+8C>T | ENSP00000322832.5:n.822+8C>T | |
| ENST00000586504.5:c.552+8C>T | ||
| ENST00000587377.5:c.*142+8C>T | ENSP00000468343.1:n.*142+8C>T | |
| ENST00000587843.5:c.*560+8C>T | ENSP00000465970.1:n.*560+8C>T | |
| ENST00000588201.5:c.*813+8C>T | ENSP00000466529.1:n.*813+8C>T | |
| ENST00000591292.5:n.2151+8C>T | ||
| ENST00000591392.5:c.758C>T | ENSP00000467509.1:p.Pro253Leu | |
| ENST00000592019.1:c.178+8C>T | ||
| NM_024589.2:c.822+8C>T , LRG_455t1:c.822+8C>T | NP_078865.1:n.822+8C>T | |
| NR_046480.1:n.1146+8C>T | ||
| XM_006720947.2:c.843+8C>T | XP_006721010.1:n.843+8C>T | |
| XM_006720948.2:c.573+8C>T | XP_006721011.1:n.573+8C>T | |
| XM_006720947.4:c.843+8C>T | XP_006721010.1:n.843+8C>T | |
| XM_006720948.4:c.573+8C>T | XP_006721011.1:n.573+8C>T | |
| NM_024589.3:c.822+8C>T MANE Select | NP_078865.1:n.822+8C>T | |
| NR_046480.2:n.829+8C>T |