Linked Data
ClinVar Variation Id:
319398
ClinVar RCV Id:
RCV000274798
dbSNP Id:
rs200558978
ExAC:
16:4847701 C / T
gnomAD v2:
16-4847701-C-T
gnomAD v3:
16-4797700-C-T
gnomAD v4:
16-4797700-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797700C>T , CM000678.2:g.4797700C>T | GRCh38 |
| NC_000016.9:g.4847701C>T , CM000678.1:g.4847701C>T | GRCh37 |
| NC_000016.8:g.4787702C>T | NCBI36 |
| NG_032174.1:g.10251G>A , LRG_455:g.10251G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.822+14G>A MANE Select | ENSP00000322832.6:n.822+14G>A | |
| ENST00000322048.11:c.822+14G>A | ENSP00000322832.5:n.822+14G>A | |
| ENST00000586504.5:c.552+14G>A | ||
| ENST00000587377.5:c.*142+14G>A | ENSP00000468343.1:n.*142+14G>A | |
| ENST00000587843.5:c.*560+14G>A | ENSP00000465970.1:n.*560+14G>A | |
| ENST00000588201.5:c.*813+14G>A | ENSP00000466529.1:n.*813+14G>A | |
| ENST00000591292.5:n.2151+14G>A | ||
| ENST00000592019.1:c.178+14G>A | ||
| NM_024589.2:c.822+14G>A , LRG_455t1:c.822+14G>A | NP_078865.1:n.822+14G>A | |
| NR_046480.1:n.1146+14G>A | ||
| XM_006720947.2:c.843+14G>A | XP_006721010.1:n.843+14G>A | |
| XM_006720948.2:c.573+14G>A | XP_006721011.1:n.573+14G>A | |
| XM_006720947.4:c.843+14G>A | XP_006721010.1:n.843+14G>A | |
| XM_006720948.4:c.573+14G>A | XP_006721011.1:n.573+14G>A | |
| NM_024589.3:c.822+14G>A MANE Select | NP_078865.1:n.822+14G>A | |
| NR_046480.2:n.829+14G>A |