Linked Data
dbSNP Id:
rs1287632661
gnomAD v2:
16-56936424-C-A
gnomAD v3:
16-56902512-C-A
gnomAD v4:
16-56902512-C-A
MyVariant Identifiers:
chr16:g.56936424C>A (hg19)
chr16:g.56936424_56936425delinsAA (hg19)
chr16:g.56902512C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56902512C>A , CM000678.2:g.56902512C>A | GRCh38 |
| NC_000016.9:g.56936424C>A , CM000678.1:g.56936424C>A | GRCh37 |
| NC_000016.8:g.55493925C>A | NCBI36 |
| NG_009386.1:g.42306C>A | |
| NG_009386.2:g.42306C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563236.6:c.2856+4C>A MANE Select | ENSP00000456149.2:n.2856+4C>A | |
| ENST00000262502.5:c.2853+4C>A | ENSP00000262502.5:n.2853+4C>A | |
| ENST00000438926.6:c.2883+4C>A | ENSP00000402152.2:n.2883+4C>A | |
| ENST00000563236.5:c.2856+4C>A | ENSP00000456149.1:n.2856+4C>A | |
| ENST00000566786.5:c.2880+4C>A | ENSP00000457552.1:n.2880+4C>A | |
| ENST00000569002.1:n.287+4C>A | ||
| NM_000339.2:c.2883+4C>A | NP_000330.2:n.2883+4C>A | |
| NM_001126107.1:c.2880+4C>A | NP_001119579.1:n.2880+4C>A | |
| NM_001126108.1:c.2856+4C>A | NP_001119580.1:n.2856+4C>A | |
| XM_005256119.1:c.2853+4C>A | XP_005256176.1:n.2853+4C>A | |
| XM_005256119.2:c.2853+4C>A | XP_005256176.1:n.2853+4C>A | |
| NM_000339.3:c.2883+4C>A | NP_000330.3:n.2883+4C>A | |
| NM_001126107.2:c.2880+4C>A | NP_001119579.2:n.2880+4C>A | |
| NM_001126108.2:c.2856+4C>A MANE Select | NP_001119580.2:n.2856+4C>A |