Linked Data
dbSNP Id:
rs2037954123
gnomAD v3:
16-56354933-C-A
gnomAD v4:
16-56354933-C-A
MyVariant Identifiers:
chr16:g.56388845C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56354933C>A , CM000678.2:g.56354933C>A | GRCh38 |
| NC_000016.9:g.56388845C>A , CM000678.1:g.56388845C>A | GRCh37 |
| NC_000016.8:g.54946346C>A | NCBI36 |
| NG_042800.1:g.168595C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262493.12:c.945C>A MANE Select | ENSP00000262493.6:p.Pro315= | |
| ENST00000562316.6:c.545-1170C>A | ENSP00000457238.2:n.545-1170C>A | |
| ENST00000564727.2:c.249C>A | ENSP00000454971.2:p.Pro83= | |
| ENST00000568375.2:c.183C>A | ||
| ENST00000638185.1:n.1160C>A | ||
| ENST00000638210.1:n.1245C>A | ||
| ENST00000638705.1:c.945C>A | ENSP00000491223.1:p.Pro315= | |
| ENST00000638836.1:n.855C>A | ||
| ENST00000639055.1:n.1666C>A | ||
| ENST00000639251.1:n.846C>A | ||
| ENST00000639268.1:c.580C>A | ||
| ENST00000639341.1:c.470C>A | ||
| ENST00000639770.1:c.983C>A | ENSP00000491999.1:n.983C>A | |
| ENST00000640390.1:n.875C>A | ||
| ENST00000640469.1:c.309C>A | ENSP00000491875.1:p.Pro103= | |
| ENST00000640560.1:n.721C>A | ||
| ENST00000640893.1:c.*343C>A | ENSP00000492677.1:n.*343C>A | |
| ENST00000262493.10:c.945C>A | ENSP00000262493.6:p.Pro315= | |
| ENST00000564727.1:c.165C>A | ENSP00000454971.1:p.Pro55= | |
| ENST00000568375.1:n.183C>A | ||
| NM_020988.2:c.945C>A | NP_066268.1:p.Pro315= | |
| XM_011523003.1:c.819C>A | XP_011521305.1:p.Pro273= | |
| XM_011523003.3:c.819C>A | XP_011521305.1:p.Pro273= | |
| NM_020988.3:c.945C>A MANE Select | NP_066268.1:p.Pro315= |