Linked Data
dbSNP Id:
rs2107820931
gnomAD v4:
3-49358195-C-T
MyVariant Identifiers:
chr3:g.49395628C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49358195C>T , CM000665.2:g.49358195C>T | GRCh38 |
| NC_000003.11:g.49395628C>T , CM000665.1:g.49395628C>T | GRCh37 |
| NC_000003.10:g.49370632C>T | NCBI36 |
| NG_012264.1:g.5164G>A | |
| NG_051308.1:g.58903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419349.3:c.84G>A | ENSP00000391316.1:p.Glu28= | |
| ENST00000496791.3:c.84G>A | ENSP00000493593.2:p.Glu28= | |
| ENST00000643797.2:c.84G>A | ENSP00000495108.1:p.Glu28= | |
| ENST00000646881.3:c.84G>A | ENSP00000495001.2:p.Glu28= | |
| ENST00000703795.1:c.84G>A | ENSP00000515480.1:p.Glu28= | |
| ENST00000703796.1:c.84G>A | ENSP00000515481.1:p.Glu28= | |
| ENST00000703797.1:c.84G>A | ENSP00000515482.1:p.Glu28= | |
| ENST00000704356.1:c.84G>A | ENSP00000515867.1:p.Glu28= | |
| ENST00000704374.1:c.84G>A | ENSP00000515879.1:p.Glu28= | |
| ENST00000704375.1:c.84G>A | ENSP00000515880.1:p.Glu28= | |
| ENST00000704376.1:c.84G>A | ENSP00000515881.1:p.Glu28= | |
| ENST00000704377.1:c.84G>A | ENSP00000515882.1:p.Glu28= | |
| ENST00000704378.1:c.84G>A | ENSP00000515883.1:p.Glu28= | |
| ENST00000704379.1:n.126-448G>A | ||
| ENST00000704380.1:n.86-448G>A | ||
| ENST00000704381.1:c.465-448G>A | ENSP00000515884.1:n.465-448G>A | |
| ENST00000419349.2:c.84G>A | ENSP00000391316.1:p.Glu28= | |
| ENST00000419783.3:c.84G>A MANE Select | ENSP00000407375.1:p.Glu28= | |
| ENST00000496791.2:c.84G>A | ENSP00000493593.2:p.Glu28= | |
| ENST00000643797.1:c.84G>A | ENSP00000495108.1:p.Glu28= | |
| ENST00000646881.2:c.84G>A | ENSP00000495001.2:p.Glu28= | |
| ENST00000419349.1:c.84G>A | ENSP00000391316.1:p.Glu28= | |
| ENST00000419783.1:c.84G>A | ENSP00000407375.1:p.Glu28= | |
| ENST00000496791.1:n.131G>A | ||
| ENST00000620890.1:c.84G>A | ENSP00000478837.1:p.Glu28= | |
| NM_000581.2:c.84G>A | NP_000572.2:p.Glu28= | |
| NM_201397.1:c.84G>A | NP_958799.1:p.Glu28= | |
| NM_000581.3:c.84G>A | NP_000572.2:p.Glu28= | |
| NM_001329455.1:c.84G>A | NP_001316384.1:p.Glu28= | |
| NM_001329502.1:c.84G>A | NP_001316431.1:p.Glu28= | |
| NM_001329503.1:c.84G>A | NP_001316432.1:p.Glu28= | |
| NM_201397.2:c.84G>A | NP_958799.1:p.Glu28= | |
| NM_000581.4:c.84G>A MANE Select | NP_000572.2:p.Glu28= | |
| NM_001329502.2:c.84G>A | NP_001316431.1:p.Glu28= | |
| NM_001329503.2:c.84G>A | NP_001316432.1:p.Glu28= | |
| NM_201397.3:c.84G>A | NP_958799.1:p.Glu28= | |
| NM_001329455.2:c.84G>A | NP_001316384.1:p.Glu28= |