Linked Data
dbSNP Id:
rs775630334
gnomAD v2:
3-81754693-C-A
gnomAD v3:
3-81705542-C-A
gnomAD v4:
3-81705542-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705542C>A , CM000665.2:g.81705542C>A | GRCh38 |
| NC_000003.11:g.81754693C>A , CM000665.1:g.81754693C>A | GRCh37 |
| NC_000003.10:g.81837383C>A | NCBI36 |
| NG_011810.1:g.61259G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.215G>T MANE Select | ENSP00000410833.2:p.Gly72Val | |
| ENST00000429644.6:c.215G>T | ENSP00000410833.2:p.Gly72Val | |
| ENST00000489715.1:c.92G>T | ENSP00000419638.1:p.Gly31Val | |
| NM_000158.3:c.215G>T | NP_000149.3:p.Gly72Val | |
| NM_000158.4:c.215G>T MANE Select | NP_000149.4:p.Gly72Val |