Linked Data
ClinVar Variation Id:
10422
dbSNP Id:
rs72554665
ExAC:
X:153760484 C / G
gnomAD v2:
X-153760484-C-G
gnomAD v3:
X-154532269-C-G
gnomAD v4:
X-154532269-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154532269C>G , CM000685.2:g.154532269C>G | GRCh38 |
| NC_000023.10:g.153760484C>G , CM000685.1:g.153760484C>G | GRCh37 |
| NC_000023.9:g.153413678C>G | NCBI36 |
| NG_009015.2:g.20304G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393564.7:c.1376G>C | ENSP00000377194.2:p.Arg459Pro | |
| ENST00000439227.6:c.1379G>C | ENSP00000395599.2:p.Arg460Pro | |
| ENST00000696420.1:c.1376G>C | ENSP00000512615.1:p.Arg459Pro | |
| ENST00000696421.1:c.1376G>C | ENSP00000512616.1:p.Arg459Pro | |
| ENST00000696422.1:c.1239G>C | ||
| ENST00000696423.1:c.1242G>C | ||
| ENST00000696424.1:c.1228G>C | ENSP00000512619.1:n.1228G>C | |
| ENST00000696425.1:c.*289G>C | ENSP00000512620.1:n.*289G>C | |
| ENST00000696426.1:c.*836G>C | ENSP00000512621.1:n.*836G>C | |
| ENST00000696427.1:c.*336G>C | ENSP00000512622.1:n.*336G>C | |
| ENST00000696428.1:c.*1218G>C | ENSP00000512623.1:n.*1218G>C | |
| ENST00000696429.1:c.1376G>C | ENSP00000512624.1:p.Arg459Pro | |
| ENST00000696430.1:c.1376G>C | ENSP00000512625.1:p.Arg459Pro | |
| ENST00000393562.10:c.1376G>C MANE Select | ENSP00000377192.3:p.Arg459Pro | |
| ENST00000369620.6:c.1514G>C | ENSP00000358633.2:p.Arg505Pro | |
| ENST00000393562.6:c.1466G>C | ENSP00000377192.2:p.Arg489Pro | |
| ENST00000393564.6:c.1376G>C | ENSP00000377194.2:p.Arg459Pro | |
| ENST00000490651.1:n.597G>C | ||
| ENST00000621232.4:c.1376G>C | ENSP00000483686.1:p.Arg459Pro | |
| NM_000402.4:c.1466G>C | NP_000393.4:p.Arg489Pro | |
| NM_001042351.2:c.1376G>C | NP_001035810.1:p.Arg459Pro | |
| XM_005274657.2:c.1469G>C | XP_005274714.1:p.Arg490Pro | |
| XM_005274658.2:c.1379G>C | XP_005274715.1:p.Arg460Pro | |
| NM_001360016.2:c.1376G>C MANE Select | NP_001346945.1:p.Arg459Pro | |
| NM_001042351.3:c.1376G>C | NP_001035810.1:p.Arg459Pro |