Linked Data
dbSNP Id:
rs782196047
ExAC:
X:53432489 G / C
gnomAD v2:
X-53432489-G-C
gnomAD v4:
X-53405557-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53405557G>C , CM000685.2:g.53405557G>C | GRCh38 |
| NC_000023.10:g.53432489G>C , CM000685.1:g.53432489G>C | GRCh37 |
| NC_000023.9:g.53449214G>C | NCBI36 |
| NG_006988.2:g.22114C>G , LRG_773:g.22114C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.1847C>G MANE Select | ENSP00000323421.3:p.Ala616Gly | |
| ENST00000674590.1:c.1079C>G | ENSP00000502626.1:p.Ala360Gly | |
| ENST00000675065.1:n.1199C>G | ||
| ENST00000675504.1:c.1781C>G | ENSP00000502524.1:p.Ala594Gly | |
| ENST00000322213.8:c.1847C>G | ENSP00000323421.3:p.Ala616Gly | |
| ENST00000375340.10:c.1781C>G | ENSP00000364489.7:p.Ala594Gly | |
| NM_001281463.1:c.1781C>G , LRG_773t1:c.1781C>G | NP_001268392.1:p.Ala594Gly | |
| NM_006306.3:c.1847C>G , LRG_773t2:c.1847C>G | NP_006297.2:p.Ala616Gly | |
| NM_006306.4:c.1847C>G MANE Select | NP_006297.2:p.Ala616Gly |