Linked Data
ClinVar Variation Id:
2063072
ClinVar RCV Id:
RCV002948180
dbSNP Id:
rs778202604
ExAC:
12:56088562 C / T
gnomAD v2:
12-56088562-C-T
gnomAD v3:
12-55694778-C-T
gnomAD v4:
12-55694778-C-T
COSMIC:
COSM5185876
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55694778C>T , CM000674.2:g.55694778C>T | GRCh38 |
| NC_000012.11:g.56088562C>T , CM000674.1:g.56088562C>T | GRCh37 |
| NC_000012.10:g.54374829C>T | NCBI36 |
| NG_012343.1:g.22528G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553893.6:c.*1820G>A | ENSP00000452467.1:n.*1820G>A | |
| ENST00000554327.6:c.868-83G>A | ||
| ENST00000557058.2:n.1611G>A | ||
| ENST00000557257.2:c.1722G>A | ENSP00000450578.2:p.Ala574= | |
| ENST00000557555.3:c.2208G>A | ENSP00000451039.3:p.Ala736= | |
| ENST00000686981.1:c.*1907G>A | ENSP00000510795.1:n.*1907G>A | |
| ENST00000687390.1:n.220G>A | ||
| ENST00000689678.1:n.220G>A | ||
| ENST00000691052.1:c.*680G>A | ENSP00000508886.1:n.*680G>A | |
| ENST00000691846.1:c.1009G>A | ||
| ENST00000691973.1:c.2208G>A | ENSP00000509141.1:p.Ala736= | |
| ENST00000257879.11:c.2196G>A MANE Select | ENSP00000257879.7:p.Ala732= | |
| ENST00000553804.6:c.2208G>A | ENSP00000452120.1:p.Ala736= | |
| ENST00000257879.10:c.2196G>A | ENSP00000257879.6:p.Ala732= | |
| ENST00000347027.10:c.2178G>A | ENSP00000343009.6:p.Ala726= | |
| ENST00000452168.6:c.1917G>A | ENSP00000393844.2:p.Ala639= | |
| ENST00000553804.5:c.2208G>A | ENSP00000452120.1:p.Ala736= | |
| ENST00000554327.5:c.262-83G>A | ||
| ENST00000555728.5:c.2328G>A | ENSP00000452387.1:p.Ala776= | |
| ENST00000557058.1:n.994G>A | ||
| NM_001144996.1:c.2208G>A | NP_001138468.1:p.Ala736= | |
| NM_001144997.1:c.1917G>A | NP_001138469.1:p.Ala639= | |
| NM_002206.2:c.2196G>A | NP_002197.2:p.Ala732= | |
| XM_005268839.1:c.2328G>A | XP_005268896.1:p.Ala776= | |
| XM_005268840.1:c.2310G>A | XP_005268897.1:p.Ala770= | |
| XM_005268841.1:c.2328G>A | XP_005268898.1:p.Ala776= | |
| XM_005268842.1:c.2178G>A | XP_005268899.1:p.Ala726= | |
| XM_005268844.1:c.1989G>A | XP_005268901.1:p.Ala663= | |
| XM_005268845.1:c.1857G>A | XP_005268902.1:p.Ala619= | |
| XM_005268846.1:c.1857G>A | XP_005268903.1:p.Ala619= | |
| XM_005268847.1:c.1854G>A | XP_005268904.1:p.Ala618= | |
| XM_005268848.1:c.1854G>A | XP_005268905.1:p.Ala618= | |
| XM_005268849.1:c.1854G>A | XP_005268906.1:p.Ala618= | |
| XM_005268850.1:c.1722G>A | XP_005268907.1:p.Ala574= | |
| XM_011538286.1:c.1989G>A | XP_011536588.1:p.Ala663= | |
| XM_005268839.2:c.2328G>A | XP_005268896.1:p.Ala776= | |
| XM_005268840.2:c.2310G>A | XP_005268897.1:p.Ala770= | |
| XM_005268841.2:c.2328G>A | XP_005268898.1:p.Ala776= | |
| XM_005268842.2:c.2178G>A | XP_005268899.1:p.Ala726= | |
| XM_017019265.1:c.1938G>A | XP_016874754.1:p.Ala646= | |
| NM_001144996.2:c.2208G>A | NP_001138468.1:p.Ala736= | |
| NM_001367993.1:c.1869G>A | NP_001354922.1:p.Ala623= | |
| NM_001367994.1:c.852G>A | NP_001354923.1:p.Ala284= | |
| NM_001374465.1:c.2178G>A | NP_001361394.1:p.Ala726= | |
| NM_002206.3:c.2196G>A MANE Select | NP_002197.2:p.Ala732= |