Linked Data
dbSNP Id:
rs754335538
ExAC:
3:81754692 G / A
gnomAD v2:
3-81754692-G-A
gnomAD v4:
3-81705541-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705541G>A , CM000665.2:g.81705541G>A | GRCh38 |
| NC_000003.11:g.81754692G>A , CM000665.1:g.81754692G>A | GRCh37 |
| NC_000003.10:g.81837382G>A | NCBI36 |
| NG_011810.1:g.61260C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.216C>T MANE Select | ENSP00000410833.2:p.Gly72= | |
| ENST00000429644.6:c.216C>T | ENSP00000410833.2:p.Gly72= | |
| ENST00000489715.1:c.93C>T | ENSP00000419638.1:p.Gly31= | |
| NM_000158.3:c.216C>T | NP_000149.3:p.Gly72= | |
| NM_000158.4:c.216C>T MANE Select | NP_000149.4:p.Gly72= |