Linked Data
dbSNP Id:
rs1342301414
gnomAD v2:
X-66931292-A-C
gnomAD v3:
X-67711450-A-C
gnomAD v4:
X-67711450-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67711450A>C , CM000685.2:g.67711450A>C | GRCh38 |
| NC_000023.10:g.66931292A>C , CM000685.1:g.66931292A>C | GRCh37 |
| NC_000023.9:g.66848017A>C | NCBI36 |
| NG_009014.2:g.172419A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*282A>C | ENSP00000379358.4:n.*282A>C | |
| ENST00000374690.9:c.1934A>C MANE Select | ENSP00000363822.3:p.Glu645Ala | |
| ENST00000396043.3:c.561A>C | ENSP00000379358.3:n.561A>C | |
| ENST00000396044.8:c.1934A>C | ENSP00000379359.3:p.Glu645Ala | |
| ENST00000612452.5:c.1934A>C | ENSP00000484033.2:p.Glu645Ala | |
| ENST00000374690.7:c.1934A>C | ENSP00000363822.3:p.Glu645Ala | |
| ENST00000396043.2:c.338A>C | ENSP00000379358.2:p.Glu113Ala | |
| ENST00000396044.7:c.1934A>C | ENSP00000379359.3:p.Glu645Ala | |
| ENST00000612452.4:c.1364A>C | ENSP00000484033.1:p.Glu455Ala | |
| NM_000044.3:c.1934A>C | NP_000035.2:p.Glu645Ala | |
| NM_001011645.2:c.338A>C | NP_001011645.1:p.Glu113Ala | |
| NM_000044.4:c.1934A>C | NP_000035.2:p.Glu645Ala | |
| NM_001011645.3:c.338A>C | NP_001011645.1:p.Glu113Ala | |
| NM_000044.6:c.1934A>C MANE Select | NP_000035.2:p.Glu645Ala |