Linked Data
ClinVar Variation Id:
1093228
ClinVar RCV Id:
RCV001413315
dbSNP Id:
rs28997583
ExAC:
X:53407063 G / C
gnomAD v2:
X-53407063-G-C
gnomAD v3:
X-53380142-G-C
gnomAD v4:
X-53380142-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53380142G>C , CM000685.2:g.53380142G>C | GRCh38 |
| NC_000023.10:g.53407063G>C , CM000685.1:g.53407063G>C | GRCh37 |
| NC_000023.9:g.53423788G>C | NCBI36 |
| NG_006988.2:g.47529C>G , LRG_773:g.47529C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3663C>G MANE Select | ENSP00000323421.3:p.Thr1221= | |
| ENST00000674590.1:c.2895C>G | ENSP00000502626.1:p.Thr965= | |
| ENST00000675504.1:c.3597C>G | ENSP00000502524.1:p.Thr1199= | |
| ENST00000322213.8:c.3663C>G | ENSP00000323421.3:p.Thr1221= | |
| ENST00000375340.10:c.3597C>G | ENSP00000364489.7:p.Thr1199= | |
| NM_001281463.1:c.3597C>G , LRG_773t1:c.3597C>G | NP_001268392.1:p.Thr1199= | |
| NM_006306.3:c.3663C>G , LRG_773t2:c.3663C>G | NP_006297.2:p.Thr1221= | |
| NM_006306.4:c.3663C>G MANE Select | NP_006297.2:p.Thr1221= |