Linked Data
ClinVar Variation Id:
761943
ClinVar RCV Id:
RCV001430576
dbSNP Id:
rs376433899
ExAC:
12:56088238 C / T
gnomAD v2:
12-56088238-C-T
gnomAD v3:
12-55694454-C-T
gnomAD v4:
12-55694454-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55694454C>T , CM000674.2:g.55694454C>T | GRCh38 |
| NC_000012.11:g.56088238C>T , CM000674.1:g.56088238C>T | GRCh37 |
| NC_000012.10:g.54374505C>T | NCBI36 |
| NG_012343.1:g.22852G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553893.6:c.*1970G>A | ENSP00000452467.1:n.*1970G>A | |
| ENST00000554327.6:c.1017G>A | ||
| ENST00000557058.2:n.1761G>A | ||
| ENST00000557257.2:c.1872G>A | ENSP00000450578.2:p.Leu624= | |
| ENST00000557555.3:c.2358G>A | ENSP00000451039.3:p.Leu786= | |
| ENST00000686981.1:c.*2057G>A | ENSP00000510795.1:n.*2057G>A | |
| ENST00000687390.1:n.452G>A | ||
| ENST00000689678.1:n.370G>A | ||
| ENST00000691052.1:c.*830G>A | ENSP00000508886.1:n.*830G>A | |
| ENST00000691846.1:c.1159G>A | ||
| ENST00000691973.1:c.2358G>A | ENSP00000509141.1:p.Leu786= | |
| ENST00000257879.11:c.2346G>A MANE Select | ENSP00000257879.7:p.Leu782= | |
| ENST00000553804.6:c.2358G>A | ENSP00000452120.1:p.Leu786= | |
| ENST00000257879.10:c.2346G>A | ENSP00000257879.6:p.Leu782= | |
| ENST00000347027.10:c.2328G>A | ENSP00000343009.6:p.Leu776= | |
| ENST00000452168.6:c.2067G>A | ENSP00000393844.2:p.Leu689= | |
| ENST00000553804.5:c.2358G>A | ENSP00000452120.1:p.Leu786= | |
| ENST00000554327.5:c.411G>A | ||
| ENST00000555728.5:c.2478G>A | ENSP00000452387.1:p.Leu826= | |
| NM_001144996.1:c.2358G>A | NP_001138468.1:p.Leu786= | |
| NM_001144997.1:c.2067G>A | NP_001138469.1:p.Leu689= | |
| NM_002206.2:c.2346G>A | NP_002197.2:p.Leu782= | |
| XM_005268839.1:c.2478G>A | XP_005268896.1:p.Leu826= | |
| XM_005268840.1:c.2460G>A | XP_005268897.1:p.Leu820= | |
| XM_005268841.1:c.2478G>A | XP_005268898.1:p.Leu826= | |
| XM_005268842.1:c.2328G>A | XP_005268899.1:p.Leu776= | |
| XM_005268844.1:c.2139G>A | XP_005268901.1:p.Leu713= | |
| XM_005268845.1:c.2007G>A | XP_005268902.1:p.Leu669= | |
| XM_005268846.1:c.2007G>A | XP_005268903.1:p.Leu669= | |
| XM_005268847.1:c.2004G>A | XP_005268904.1:p.Leu668= | |
| XM_005268848.1:c.2004G>A | XP_005268905.1:p.Leu668= | |
| XM_005268849.1:c.2004G>A | XP_005268906.1:p.Leu668= | |
| XM_005268850.1:c.1872G>A | XP_005268907.1:p.Leu624= | |
| XM_011538286.1:c.2139G>A | XP_011536588.1:p.Leu713= | |
| XM_005268839.2:c.2478G>A | XP_005268896.1:p.Leu826= | |
| XM_005268840.2:c.2460G>A | XP_005268897.1:p.Leu820= | |
| XM_005268841.2:c.2478G>A | XP_005268898.1:p.Leu826= | |
| XM_005268842.2:c.2328G>A | XP_005268899.1:p.Leu776= | |
| XM_017019265.1:c.2088G>A | XP_016874754.1:p.Leu696= | |
| NM_001144996.2:c.2358G>A | NP_001138468.1:p.Leu786= | |
| NM_001367993.1:c.2019G>A | NP_001354922.1:p.Leu673= | |
| NM_001367994.1:c.1002G>A | NP_001354923.1:p.Leu334= | |
| NM_001374465.1:c.2328G>A | NP_001361394.1:p.Leu776= | |
| NM_002206.3:c.2346G>A MANE Select | NP_002197.2:p.Leu782= |