Linked Data
ClinVar Variation Id:
537991
ClinVar RCV Id:
RCV000647114
dbSNP Id:
rs763739936
ExAC:
12:56087870 C / A
gnomAD v2:
12-56087870-C-A
gnomAD v3:
12-55694086-C-A
gnomAD v4:
12-55694086-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55694086C>A , CM000674.2:g.55694086C>A | GRCh38 |
| NC_000012.11:g.56087870C>A , CM000674.1:g.56087870C>A | GRCh37 |
| NC_000012.10:g.54374137C>A | NCBI36 |
| NG_012343.1:g.23220G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553893.6:c.*2094G>T | ENSP00000452467.1:n.*2094G>T | |
| ENST00000554327.6:c.1141G>T | ||
| ENST00000557058.2:n.1885G>T | ||
| ENST00000557257.2:c.1996G>T | ENSP00000450578.2:p.Val666Leu | |
| ENST00000557555.3:c.2482G>T | ENSP00000451039.3:p.Val828Leu | |
| ENST00000686981.1:c.*2181G>T | ENSP00000510795.1:n.*2181G>T | |
| ENST00000687390.1:n.576G>T | ||
| ENST00000689678.1:n.626G>T | ||
| ENST00000691052.1:c.*954G>T | ENSP00000508886.1:n.*954G>T | |
| ENST00000691846.1:c.1283G>T | ||
| ENST00000691973.1:c.2482G>T | ENSP00000509141.1:p.Val828Leu | |
| ENST00000257879.11:c.2470G>T MANE Select | ENSP00000257879.7:p.Val824Leu | |
| ENST00000553804.6:c.2482G>T | ENSP00000452120.1:p.Val828Leu | |
| ENST00000257879.10:c.2470G>T | ENSP00000257879.6:p.Val824Leu | |
| ENST00000347027.10:c.2452G>T | ENSP00000343009.6:p.Val818Leu | |
| ENST00000452168.6:c.2191G>T | ENSP00000393844.2:p.Val731Leu | |
| ENST00000553804.5:c.2482G>T | ENSP00000452120.1:p.Val828Leu | |
| ENST00000554327.5:c.535G>T | ||
| ENST00000555728.5:c.2602G>T | ENSP00000452387.1:p.Val868Leu | |
| NM_001144996.1:c.2482G>T | NP_001138468.1:p.Val828Leu | |
| NM_001144997.1:c.2191G>T | NP_001138469.1:p.Val731Leu | |
| NM_002206.2:c.2470G>T | NP_002197.2:p.Val824Leu | |
| XM_005268839.1:c.2602G>T | XP_005268896.1:p.Val868Leu | |
| XM_005268840.1:c.2584G>T | XP_005268897.1:p.Val862Leu | |
| XM_005268841.1:c.2602G>T | XP_005268898.1:p.Val868Leu | |
| XM_005268842.1:c.2452G>T | XP_005268899.1:p.Val818Leu | |
| XM_005268844.1:c.2263G>T | XP_005268901.1:p.Val755Leu | |
| XM_005268845.1:c.2131G>T | XP_005268902.1:p.Val711Leu | |
| XM_005268846.1:c.2131G>T | XP_005268903.1:p.Val711Leu | |
| XM_005268847.1:c.2128G>T | XP_005268904.1:p.Val710Leu | |
| XM_005268848.1:c.2128G>T | XP_005268905.1:p.Val710Leu | |
| XM_005268849.1:c.2128G>T | XP_005268906.1:p.Val710Leu | |
| XM_005268850.1:c.1996G>T | XP_005268907.1:p.Val666Leu | |
| XM_011538286.1:c.2263G>T | XP_011536588.1:p.Val755Leu | |
| XM_005268839.2:c.2602G>T | XP_005268896.1:p.Val868Leu | |
| XM_005268840.2:c.2584G>T | XP_005268897.1:p.Val862Leu | |
| XM_005268841.2:c.2602G>T | XP_005268898.1:p.Val868Leu | |
| XM_005268842.2:c.2452G>T | XP_005268899.1:p.Val818Leu | |
| XM_017019265.1:c.2212G>T | XP_016874754.1:p.Val738Leu | |
| NM_001144996.2:c.2482G>T | NP_001138468.1:p.Val828Leu | |
| NM_001367993.1:c.2143G>T | NP_001354922.1:p.Val715Leu | |
| NM_001367994.1:c.1126G>T | NP_001354923.1:p.Val376Leu | |
| NM_001374465.1:c.2452G>T | NP_001361394.1:p.Val818Leu | |
| NM_002206.3:c.2470G>T MANE Select | NP_002197.2:p.Val824Leu |