Linked Data
dbSNP Id:
rs374440827
ExAC:
18:57105321 C / A
gnomAD v2:
18-57105321-C-A
gnomAD v4:
18-59438089-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59438089C>A , CM000680.2:g.59438089C>A | GRCh38 |
| NC_000018.9:g.57105321C>A , CM000680.1:g.57105321C>A | GRCh37 |
| NC_000018.8:g.55256301C>A | NCBI36 |
| NG_016990.1:g.264324G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589419.2:n.990+22G>T | ||
| ENST00000650467.2:c.765+22G>T | ENSP00000496897.2:n.765+22G>T | |
| ENST00000695903.1:c.*18G>T | ENSP00000512255.1:n.*18G>T | |
| ENST00000695904.1:c.1100+22G>T | ENSP00000512259.1:n.1100+22G>T | |
| ENST00000439986.9:c.987+22G>T MANE Select | ENSP00000404464.2:n.987+22G>T | |
| ENST00000589116.2:n.695+22G>T | ||
| ENST00000649564.1:c.987+22G>T | ENSP00000497183.1:n.987+22G>T | |
| ENST00000650467.1:c.643+22G>T | ||
| ENST00000398179.3:c.777+22G>T | ENSP00000381241.3:n.777+22G>T | |
| ENST00000439986.8:c.987+22G>T | ENSP00000404464.2:n.987+22G>T | |
| ENST00000589116.1:n.695+22G>T | ||
| NM_133459.3:c.987+22G>T | NP_597716.1:n.987+22G>T | |
| XM_005266648.2:c.987+22G>T | XP_005266705.1:n.987+22G>T | |
| NM_133459.4:c.987+22G>T MANE Select | NP_597716.1:n.987+22G>T | |
| XM_017025556.1:c.1100+22G>T | XP_016881045.1:n.1100+22G>T | |
| XM_017025557.1:c.1100+22G>T | XP_016881046.1:n.1100+22G>T | |
| XM_017025558.1:c.1009G>T | XP_016881047.1:p.Ala337Ser | |
| XM_024451091.1:c.987+22G>T | XP_024306859.1:n.987+22G>T | |
| XR_001753142.1:n.1961G>T |