Linked Data
dbSNP Id:
rs1719050267
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404801A>G , CM000665.2:g.190404801A>G | GRCh38 |
| NC_000003.11:g.190122590A>G , CM000665.1:g.190122590A>G | GRCh37 |
| NC_000003.10:g.191605284A>G | NCBI36 |
| NG_008149.1:g.21750A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.257A>G MANE Select | ENSP00000264734.3:p.Asp86Gly | |
| ENST00000456423.2:c.115-5102A>G | ENSP00000414136.2:n.115-5102A>G | |
| ENST00000264734.2:c.467A>G | ENSP00000264734.2:p.Asp156Gly | |
| ENST00000456423.1:c.325-5102A>G | ENSP00000414136.1:n.325-5102A>G | |
| ENST00000468220.1:n.449A>G | ||
| NM_006580.3:c.467A>G | NP_006571.1:p.Asp156Gly | |
| NM_001378492.1:c.257A>G | NP_001365421.1:p.Asp86Gly | |
| NM_001378493.1:c.257A>G | NP_001365422.1:p.Asp86Gly | |
| NM_006580.4:c.257A>G MANE Select | NP_006571.2:p.Asp86Gly |