Linked Data
ClinVar Variation Id:
8832
dbSNP Id:
rs137852706
ExAC:
16:23360029 G / A
gnomAD v2:
16-23360029-G-A
gnomAD v3:
16-23348708-G-A
gnomAD v4:
16-23348708-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23348708G>A , CM000678.2:g.23348708G>A | GRCh38 |
| NC_000016.9:g.23360029G>A , CM000678.1:g.23360029G>A | GRCh37 |
| NC_000016.8:g.23267530G>A | NCBI36 |
| NG_011908.1:g.51439G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343070.7:c.109G>A MANE Select | ENSP00000345751.2:p.Gly37Ser | |
| ENST00000307331.9:c.244G>A | ENSP00000302874.5:p.Gly82Ser | |
| ENST00000343070.6:c.109G>A | ENSP00000345751.2:p.Gly37Ser | |
| ENST00000564275.5:c.109G>A | ENSP00000457754.1:p.Gly37Ser | |
| ENST00000568085.5:c.109G>A | ENSP00000455673.1:p.Gly37Ser | |
| ENST00000568923.5:c.109G>A | ENSP00000456309.1:p.Gly37Ser | |
| ENST00000569789.1:n.295G>A | ||
| NM_000336.2:c.109G>A | NP_000327.2:p.Gly37Ser | |
| XM_011545913.1:c.142G>A | XP_011544215.1:p.Gly48Ser | |
| XM_011545914.1:c.127G>A | XP_011544216.1:p.Gly43Ser | |
| XM_011545913.2:c.142G>A | XP_011544215.1:p.Gly48Ser | |
| XM_017023525.1:c.166G>A | XP_016879014.1:p.Gly56Ser | |
| XM_017023526.1:c.166G>A | XP_016879015.1:p.Gly56Ser | |
| NM_000336.3:c.109G>A MANE Select | NP_000327.2:p.Gly37Ser |