Linked Data
dbSNP Id:
rs1264386055
gnomAD v2:
8-23540262-G-A
gnomAD v3:
8-23682749-G-A
gnomAD v4:
8-23682749-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23682749G>A , CM000670.2:g.23682749G>A | GRCh38 |
| NC_000008.10:g.23540262G>A , CM000670.1:g.23540262G>A | GRCh37 |
| NC_000008.9:g.23596207G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380871.5:c.141C>T MANE Select | ENSP00000370253.4:p.Ser47= | |
| ENST00000380871.4:c.141C>T | ENSP00000370253.4:p.Ser47= | |
| ENST00000523261.1:c.33+108C>T | ENSP00000429729.1:n.33+108C>T | |
| NM_001256339.1:c.33+108C>T | NP_001243268.1:n.33+108C>T | |
| NM_006167.3:c.141C>T | NP_006158.2:p.Ser47= | |
| NR_046072.1:n.18+155C>T | ||
| XR_001745842.1:n.1312+13999G>A | ||
| NM_006167.4:c.141C>T MANE Select | NP_006158.2:p.Ser47= | |
| NR_046072.2:n.35+155C>T |