Linked Data
ClinVar Variation Id:
388582
ClinVar RCV Id:
RCV000426480
dbSNP Id:
rs1057523162
gnomAD v4:
12-55694967-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55694967A>G , CM000674.2:g.55694967A>G | GRCh38 |
| NC_000012.11:g.56088751A>G , CM000674.1:g.56088751A>G | GRCh37 |
| NC_000012.10:g.54375018A>G | NCBI36 |
| NG_012343.1:g.22339T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553893.6:c.*1631T>C | ENSP00000452467.1:n.*1631T>C | |
| ENST00000554327.6:c.868-272T>C | ||
| ENST00000557058.2:n.1422T>C | ||
| ENST00000557257.2:c.1533T>C | ENSP00000450578.2:p.Asp511= | |
| ENST00000557555.3:c.2019T>C | ENSP00000451039.3:p.Asp673= | |
| ENST00000686981.1:c.*1718T>C | ENSP00000510795.1:n.*1718T>C | |
| ENST00000687390.1:n.31T>C | ||
| ENST00000689678.1:n.31T>C | ||
| ENST00000691052.1:c.*491T>C | ENSP00000508886.1:n.*491T>C | |
| ENST00000691846.1:c.820T>C | ||
| ENST00000691973.1:c.2019T>C | ENSP00000509141.1:p.Asp673= | |
| ENST00000257879.11:c.2007T>C MANE Select | ENSP00000257879.7:p.Asp669= | |
| ENST00000553804.6:c.2019T>C | ENSP00000452120.1:p.Asp673= | |
| ENST00000257879.10:c.2007T>C | ENSP00000257879.6:p.Asp669= | |
| ENST00000347027.10:c.1989T>C | ENSP00000343009.6:p.Asp663= | |
| ENST00000452168.6:c.1728T>C | ENSP00000393844.2:p.Asp576= | |
| ENST00000553804.5:c.2019T>C | ENSP00000452120.1:p.Asp673= | |
| ENST00000554327.5:c.262-272T>C | ||
| ENST00000555728.5:c.2139T>C | ENSP00000452387.1:p.Asp713= | |
| ENST00000557058.1:n.805T>C | ||
| NM_001144996.1:c.2019T>C | NP_001138468.1:p.Asp673= | |
| NM_001144997.1:c.1728T>C | NP_001138469.1:p.Asp576= | |
| NM_002206.2:c.2007T>C | NP_002197.2:p.Asp669= | |
| XM_005268839.1:c.2139T>C | XP_005268896.1:p.Asp713= | |
| XM_005268840.1:c.2121T>C | XP_005268897.1:p.Asp707= | |
| XM_005268841.1:c.2139T>C | XP_005268898.1:p.Asp713= | |
| XM_005268842.1:c.1989T>C | XP_005268899.1:p.Asp663= | |
| XM_005268844.1:c.1800T>C | XP_005268901.1:p.Asp600= | |
| XM_005268845.1:c.1668T>C | XP_005268902.1:p.Asp556= | |
| XM_005268846.1:c.1668T>C | XP_005268903.1:p.Asp556= | |
| XM_005268847.1:c.1665T>C | XP_005268904.1:p.Asp555= | |
| XM_005268848.1:c.1665T>C | XP_005268905.1:p.Asp555= | |
| XM_005268849.1:c.1665T>C | XP_005268906.1:p.Asp555= | |
| XM_005268850.1:c.1533T>C | XP_005268907.1:p.Asp511= | |
| XM_011538286.1:c.1800T>C | XP_011536588.1:p.Asp600= | |
| XM_005268839.2:c.2139T>C | XP_005268896.1:p.Asp713= | |
| XM_005268840.2:c.2121T>C | XP_005268897.1:p.Asp707= | |
| XM_005268841.2:c.2139T>C | XP_005268898.1:p.Asp713= | |
| XM_005268842.2:c.1989T>C | XP_005268899.1:p.Asp663= | |
| XM_017019265.1:c.1749T>C | XP_016874754.1:p.Asp583= | |
| NM_001144996.2:c.2019T>C | NP_001138468.1:p.Asp673= | |
| NM_001367993.1:c.1680T>C | NP_001354922.1:p.Asp560= | |
| NM_001367994.1:c.663T>C | NP_001354923.1:p.Asp221= | |
| NM_001374465.1:c.1989T>C | NP_001361394.1:p.Asp663= | |
| NM_002206.3:c.2007T>C MANE Select | NP_002197.2:p.Asp669= |