Linked Data
ClinVar Variation Id:
31680
ClinVar RCV Id:
RCV000024360
RCV000515584
RCV001075306
RCV001536095
RCV001818178
RCV003924859
RCV003993751
dbSNP Id:
rs376586707
ExAC:
16:1607935 C / A
gnomAD v2:
16-1607935-C-A
gnomAD v3:
16-1557934-C-A
gnomAD v4:
16-1557934-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1557934C>A , CM000678.2:g.1557934C>A | GRCh38 |
| NC_000016.9:g.1607935C>A , CM000678.1:g.1607935C>A | GRCh37 |
| NC_000016.8:g.1547936C>A | NCBI36 |
| NG_032783.1:g.59175G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.2399+1G>T MANE Select | ENSP00000406012.2:n.2399+1G>T | |
| ENST00000397417.6:c.*951+1G>T | ENSP00000380562.2:n.*951+1G>T | |
| ENST00000426508.6:c.2399+1G>T | ENSP00000406012.2:n.2399+1G>T | |
| ENST00000439987.6:n.2460+1G>T | ||
| ENST00000561954.1:n.447G>T | ||
| ENST00000565298.5:n.1087+1G>T | ||
| NM_014714.3:c.2399+1G>T | NP_055529.2:n.2399+1G>T | |
| XM_005255725.3:c.2399+1G>T | XP_005255782.1:n.2399+1G>T | |
| XM_005255726.2:c.2399+1G>T | XP_005255783.1:n.2399+1G>T | |
| XM_006720989.2:c.2399+1G>T | XP_006721052.1:n.2399+1G>T | |
| XM_006720990.2:c.2399+1G>T | XP_006721053.1:n.2399+1G>T | |
| XM_006720991.2:c.2399+1G>T | XP_006721054.1:n.2399+1G>T | |
| XM_011522766.1:c.2153+1G>T | XP_011521068.1:n.2153+1G>T | |
| XM_011522767.1:c.1424+1G>T | XP_011521069.1:n.1424+1G>T | |
| XM_011522768.1:c.2399+1G>T | XP_011521070.1:n.2399+1G>T | |
| XM_011522769.1:c.2399+1G>T | XP_011521071.1:n.2399+1G>T | |
| XM_011522771.1:c.2399+1G>T | XP_011521073.1:n.2399+1G>T | |
| XM_011522772.1:c.2399+1G>T | XP_011521074.1:n.2399+1G>T | |
| XM_005255725.5:c.2399+1G>T | XP_005255782.1:n.2399+1G>T | |
| XM_005255726.4:c.2399+1G>T | XP_005255783.1:n.2399+1G>T | |
| XM_006720990.3:c.2399+1G>T | XP_006721053.1:n.2399+1G>T | |
| XM_006720991.3:c.2399+1G>T | XP_006721054.1:n.2399+1G>T | |
| XM_011522766.3:c.2153+1G>T | XP_011521068.1:n.2153+1G>T | |
| XM_011522767.2:c.1424+1G>T | XP_011521069.1:n.1424+1G>T | |
| XM_011522769.3:c.2399+1G>T | XP_011521071.1:n.2399+1G>T | |
| XM_011522771.3:c.2399+1G>T | XP_011521073.1:n.2399+1G>T | |
| XM_011522772.3:c.2399+1G>T | XP_011521074.1:n.2399+1G>T | |
| XM_017023910.1:c.2399+1G>T | XP_016879399.1:n.2399+1G>T | |
| XM_017023911.1:c.584+1G>T | XP_016879400.1:n.584+1G>T | |
| NM_014714.4:c.2399+1G>T MANE Select | NP_055529.2:n.2399+1G>T |