Linked Data
ClinVar Variation Id:
215918
ClinVar RCV Id:
RCV000199632
RCV000278046
RCV000293468
RCV000328738
RCV000332180
RCV000389025
RCV000592513
RCV001701706
RCV001174133
RCV002399742
dbSNP Id:
rs115976458
ExAC:
12:110231773 T / C
gnomAD v2:
12-110231773-T-C
gnomAD v3:
12-109793968-T-C
gnomAD v4:
12-109793968-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109793968T>C , CM000674.2:g.109793968T>C | GRCh38 |
| NC_000012.11:g.110231773T>C , CM000674.1:g.110231773T>C | GRCh37 |
| NC_000012.10:g.108716156T>C | NCBI36 |
| NG_017090.1:g.44440A>G , LRG_372:g.44440A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.1546A>G MANE Select | ENSP00000261740.2:p.Ile516Val | |
| ENST00000418703.7:c.1546A>G | ENSP00000406191.2:p.Ile516Val | |
| ENST00000674908.1:c.*633A>G | ENSP00000502012.1:n.*633A>G | |
| ENST00000675533.1:n.1577A>G | ||
| ENST00000675670.1:c.1546A>G | ENSP00000502135.1:p.Ile516Val | |
| ENST00000676376.1:n.1577A>G | ||
| ENST00000261740.6:c.1546A>G | ENSP00000261740.2:p.Ile516Val | |
| ENST00000418703.6:c.1546A>G | ENSP00000406191.2:p.Ile516Val | |
| ENST00000536838.1:c.1444A>G | ENSP00000444336.1:p.Ile482Val | |
| ENST00000537083.5:c.1366A>G | ENSP00000442738.1:p.Ile456Val | |
| ENST00000538125.5:c.1546A>G | ENSP00000437449.1:p.Ile516Val | |
| ENST00000541794.5:c.1405A>G | ENSP00000442167.1:p.Ile469Val | |
| ENST00000544971.5:c.1225A>G | ENSP00000443611.1:p.Ile409Val | |
| NM_001177428.1:c.1405A>G | NP_001170899.1:p.Ile469Val | |
| NM_001177431.1:c.1444A>G | NP_001170902.1:p.Ile482Val | |
| NM_001177433.1:c.1225A>G | NP_001170904.1:p.Ile409Val | |
| NM_021625.4:c.1546A>G , LRG_372t1:c.1546A>G | NP_067638.3:p.Ile516Val | |
| NM_147204.2:c.1366A>G | NP_671737.1:p.Ile456Val | |
| XM_005253918.1:c.1546A>G | XP_005253975.1:p.Ile516Val | |
| XM_011538630.1:c.1546A>G | XP_011536932.1:p.Ile516Val | |
| XM_011538631.1:c.1405A>G | XP_011536933.1:p.Ile469Val | |
| XM_011538632.1:c.1366A>G | XP_011536934.1:p.Ile456Val | |
| XM_011538633.1:c.1225A>G | XP_011536935.1:p.Ile409Val | |
| XM_011538634.1:c.1546A>G | XP_011536936.1:p.Ile516Val | |
| XM_011538635.1:c.1699A>G | XP_011536937.1:p.Ile567Val | |
| XM_011538636.1:c.1699A>G | XP_011536938.1:p.Ile567Val | |
| XM_011538630.2:c.1699A>G | XP_011536932.2:p.Ile567Val | |
| XM_011538631.2:c.1558A>G | XP_011536933.2:p.Ile520Val | |
| XM_011538632.2:c.1519A>G | XP_011536934.2:p.Ile507Val | |
| XM_011538633.2:c.1378A>G | XP_011536935.2:p.Ile460Val | |
| XM_011538634.2:c.1699A>G | XP_011536936.2:p.Ile567Val | |
| XM_011538635.2:c.1699A>G | XP_011536937.1:p.Ile567Val | |
| XM_017019774.1:c.1546A>G | XP_016875263.1:p.Ile516Val | |
| NM_021625.5:c.1546A>G MANE Select | NP_067638.3:p.Ile516Val |