Linked Data
ClinVar Variation Id:
1453327
ClinVar RCV Id:
RCV002002352
dbSNP Id:
rs2136466291
gnomAD v4:
12-109792405-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109792405A>G , CM000674.2:g.109792405A>G | GRCh38 |
| NC_000012.11:g.110230210A>G , CM000674.1:g.110230210A>G | GRCh37 |
| NC_000012.10:g.108714593A>G | NCBI36 |
| NG_017090.1:g.46003T>C , LRG_372:g.46003T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.1849T>C MANE Select | ENSP00000261740.2:p.Phe617Leu | |
| ENST00000418703.7:c.1849T>C | ENSP00000406191.2:p.Phe617Leu | |
| ENST00000674908.1:c.*936T>C | ENSP00000502012.1:n.*936T>C | |
| ENST00000675533.1:n.1880T>C | ||
| ENST00000675670.1:c.1849T>C | ENSP00000502135.1:p.Phe617Leu | |
| ENST00000676376.1:n.1880T>C | ||
| ENST00000261740.6:c.1849T>C | ENSP00000261740.2:p.Phe617Leu | |
| ENST00000418703.6:c.1849T>C | ENSP00000406191.2:p.Phe617Leu | |
| ENST00000536838.1:c.1747T>C | ENSP00000444336.1:p.Phe583Leu | |
| ENST00000537083.5:c.1669T>C | ENSP00000442738.1:p.Phe557Leu | |
| ENST00000538125.5:c.*232T>C | ENSP00000437449.1:n.*232T>C | |
| ENST00000541794.5:c.1708T>C | ENSP00000442167.1:p.Phe570Leu | |
| ENST00000544971.5:c.1528T>C | ENSP00000443611.1:p.Phe510Leu | |
| NM_001177428.1:c.1708T>C | NP_001170899.1:p.Phe570Leu | |
| NM_001177431.1:c.1747T>C | NP_001170902.1:p.Phe583Leu | |
| NM_001177433.1:c.1528T>C | NP_001170904.1:p.Phe510Leu | |
| NM_021625.4:c.1849T>C , LRG_372t1:c.1849T>C | NP_067638.3:p.Phe617Leu | |
| NM_147204.2:c.1669T>C | NP_671737.1:p.Phe557Leu | |
| XM_005253918.1:c.1849T>C | XP_005253975.1:p.Phe617Leu | |
| XM_011538630.1:c.1849T>C | XP_011536932.1:p.Phe617Leu | |
| XM_011538631.1:c.1708T>C | XP_011536933.1:p.Phe570Leu | |
| XM_011538632.1:c.1669T>C | XP_011536934.1:p.Phe557Leu | |
| XM_011538633.1:c.1528T>C | XP_011536935.1:p.Phe510Leu | |
| XM_011538634.1:c.1849T>C | XP_011536936.1:p.Phe617Leu | |
| XM_011538635.1:c.2002T>C | XP_011536937.1:p.Phe668Leu | |
| XM_011538630.2:c.2002T>C | XP_011536932.2:p.Phe668Leu | |
| XM_011538631.2:c.1861T>C | XP_011536933.2:p.Phe621Leu | |
| XM_011538632.2:c.1822T>C | XP_011536934.2:p.Phe608Leu | |
| XM_011538633.2:c.1681T>C | XP_011536935.2:p.Phe561Leu | |
| XM_011538634.2:c.2002T>C | XP_011536936.2:p.Phe668Leu | |
| XM_011538635.2:c.2002T>C | XP_011536937.1:p.Phe668Leu | |
| XM_017019774.1:c.1849T>C | XP_016875263.1:p.Phe617Leu | |
| NM_021625.5:c.1849T>C MANE Select | NP_067638.3:p.Phe617Leu |