Linked Data
ClinVar Variation Id:
10388
dbSNP Id:
rs76723693
ExAC:
X:153761240 A / G
gnomAD v2:
X-153761240-A-G
gnomAD v3:
X-154533025-A-G
gnomAD v4:
X-154533025-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154533025A>G , CM000685.2:g.154533025A>G | GRCh38 |
| NC_000023.10:g.153761240A>G , CM000685.1:g.153761240A>G | GRCh37 |
| NC_000023.9:g.153414434A>G | NCBI36 |
| NG_009015.2:g.19548T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393564.7:c.968T>C | ENSP00000377194.2:p.Leu323Pro | |
| ENST00000439227.6:c.971T>C | ENSP00000395599.2:p.Leu324Pro | |
| ENST00000696420.1:c.968T>C | ENSP00000512615.1:p.Leu323Pro | |
| ENST00000696421.1:c.968T>C | ENSP00000512616.1:p.Leu323Pro | |
| ENST00000696422.1:c.831T>C | ||
| ENST00000696423.1:c.834T>C | ||
| ENST00000696424.1:c.820T>C | ENSP00000512619.1:n.820T>C | |
| ENST00000696425.1:c.865-223T>C | ENSP00000512620.1:n.865-223T>C | |
| ENST00000696426.1:c.*428T>C | ENSP00000512621.1:n.*428T>C | |
| ENST00000696427.1:c.975T>C | ENSP00000512622.1:p.Pro325= | |
| ENST00000696428.1:c.*810T>C | ENSP00000512623.1:n.*810T>C | |
| ENST00000696429.1:c.968T>C | ENSP00000512624.1:p.Leu323Pro | |
| ENST00000696430.1:c.968T>C | ENSP00000512625.1:p.Leu323Pro | |
| ENST00000393562.10:c.968T>C MANE Select | ENSP00000377192.3:p.Leu323Pro | |
| ENST00000369620.6:c.1106T>C | ENSP00000358633.2:p.Leu369Pro | |
| ENST00000393562.6:c.1058T>C | ENSP00000377192.2:p.Leu353Pro | |
| ENST00000393564.6:c.968T>C | ENSP00000377194.2:p.Leu323Pro | |
| ENST00000439227.5:c.971T>C | ENSP00000395599.1:p.Leu324Pro | |
| ENST00000490651.1:n.50T>C | ||
| ENST00000621232.4:c.968T>C | ENSP00000483686.1:p.Leu323Pro | |
| NM_000402.4:c.1058T>C | NP_000393.4:p.Leu353Pro | |
| NM_001042351.2:c.968T>C | NP_001035810.1:p.Leu323Pro | |
| XM_005274657.2:c.1061T>C | XP_005274714.1:p.Leu354Pro | |
| XM_005274658.2:c.971T>C | XP_005274715.1:p.Leu324Pro | |
| XM_011531132.1:c.958-223T>C | XP_011529434.1:n.958-223T>C | |
| NM_001360016.2:c.968T>C MANE Select | NP_001346945.1:p.Leu323Pro | |
| NM_001042351.3:c.968T>C | NP_001035810.1:p.Leu323Pro |