Linked Data
dbSNP Id:
rs12851929
ExAC:
X:53432183 C / G
gnomAD v2:
X-53432183-C-G
gnomAD v3:
X-53405251-C-G
gnomAD v4:
X-53405251-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53405251C>G , CM000685.2:g.53405251C>G | GRCh38 |
| NC_000023.10:g.53432183C>G , CM000685.1:g.53432183C>G | GRCh37 |
| NC_000023.9:g.53448908C>G | NCBI36 |
| NG_006988.2:g.22420G>C , LRG_773:g.22420G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.2052G>C MANE Select | ENSP00000323421.3:p.Glu684Asp | |
| ENST00000674590.1:c.1284G>C | ENSP00000502626.1:p.Glu428Asp | |
| ENST00000675065.1:n.1404G>C | ||
| ENST00000675504.1:c.1986G>C | ENSP00000502524.1:p.Glu662Asp | |
| ENST00000322213.8:c.2052G>C | ENSP00000323421.3:p.Glu684Asp | |
| ENST00000375340.10:c.1986G>C | ENSP00000364489.7:p.Glu662Asp | |
| NM_001281463.1:c.1986G>C , LRG_773t1:c.1986G>C | NP_001268392.1:p.Glu662Asp | |
| NM_006306.3:c.2052G>C , LRG_773t2:c.2052G>C | NP_006297.2:p.Glu684Asp | |
| NM_006306.4:c.2052G>C MANE Select | NP_006297.2:p.Glu684Asp |