Linked Data
ClinVar Variation Id:
10372
ClinVar RCV Id:
RCV000011092
RCV000011093
RCV000180200
RCV000757322
RCV000763204
RCV001166655
RCV003466847
RCV003904827
dbSNP Id:
rs137852318
ExAC:
X:153761811 C / G
gnomAD v2:
X-153761811-C-G
gnomAD v3:
X-154533596-C-G
gnomAD v4:
X-154533596-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154533596C>G , CM000685.2:g.154533596C>G | GRCh38 |
| NC_000023.10:g.153761811C>G , CM000685.1:g.153761811C>G | GRCh37 |
| NC_000023.9:g.153415005C>G | NCBI36 |
| NG_009015.2:g.18977G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393564.7:c.844G>C | ENSP00000377194.2:p.Asp282His | |
| ENST00000439227.6:c.847G>C | ENSP00000395599.2:p.Asp283His | |
| ENST00000696420.1:c.844G>C | ENSP00000512615.1:p.Asp282His | |
| ENST00000696421.1:c.844G>C | ENSP00000512616.1:p.Asp282His | |
| ENST00000696422.1:c.707G>C | ||
| ENST00000696423.1:c.710G>C | ||
| ENST00000696424.1:c.696G>C | ENSP00000512619.1:p.Gln232His | |
| ENST00000696425.1:c.844G>C | ENSP00000512620.1:p.Asp282His | |
| ENST00000696426.1:c.844G>C | ENSP00000512621.1:p.Asp282His | |
| ENST00000696427.1:c.844G>C | ENSP00000512622.1:p.Asp282His | |
| ENST00000696428.1:c.*686G>C | ENSP00000512623.1:n.*686G>C | |
| ENST00000696429.1:c.844G>C | ENSP00000512624.1:p.Asp282His | |
| ENST00000696430.1:c.844G>C | ENSP00000512625.1:p.Asp282His | |
| ENST00000393562.10:c.844G>C MANE Select | ENSP00000377192.3:p.Asp282His | |
| ENST00000369620.6:c.982G>C | ENSP00000358633.2:p.Asp328His | |
| ENST00000393562.6:c.934G>C | ENSP00000377192.2:p.Asp312His | |
| ENST00000393564.6:c.844G>C | ENSP00000377194.2:p.Asp282His | |
| ENST00000439227.5:c.847G>C | ENSP00000395599.1:p.Asp283His | |
| ENST00000440967.5:c.847G>C | ENSP00000400648.1:p.Asp283His | |
| ENST00000489497.1:n.233G>C | ||
| ENST00000621232.4:c.844G>C | ENSP00000483686.1:p.Asp282His | |
| NM_000402.4:c.934G>C | NP_000393.4:p.Asp312His | |
| NM_001042351.2:c.844G>C | NP_001035810.1:p.Asp282His | |
| XM_005274657.2:c.937G>C | XP_005274714.1:p.Asp313His | |
| XM_005274658.2:c.847G>C | XP_005274715.1:p.Asp283His | |
| XM_011531132.1:c.937G>C | XP_011529434.1:p.Asp313His | |
| NM_001360016.2:c.844G>C MANE Select | NP_001346945.1:p.Asp282His | |
| NM_001042351.3:c.844G>C | NP_001035810.1:p.Asp282His |