Linked Data
ClinVar Variation Id:
143065
ClinVar RCV Id:
RCV000132573
dbSNP Id:
rs527236089
gnomAD v2:
4-652807-G-C
gnomAD v4:
4-659018-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.659018G>C , CM000666.2:g.659018G>C | GRCh38 |
| NC_000004.11:g.652807G>C , CM000666.1:g.652807G>C | GRCh37 |
| NC_000004.10:g.642807G>C | NCBI36 |
| NG_009839.1:g.38445G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.1467+1G>C MANE Select | ENSP00000420295.1:n.1467+1G>C | |
| ENST00000255622.10:c.1467+1G>C | ENSP00000255622.6:n.1467+1G>C | |
| ENST00000429163.6:c.630+1G>C | ENSP00000406334.2:n.630+1G>C | |
| ENST00000496514.5:c.1467+1G>C | ENSP00000420295.1:n.1467+1G>C | |
| NM_000283.3:c.1467+1G>C | NP_000274.2:n.1467+1G>C | |
| NM_001145291.1:c.1467+1G>C | NP_001138763.1:n.1467+1G>C | |
| NM_001145292.1:c.630+1G>C | NP_001138764.1:n.630+1G>C | |
| XM_011513473.1:c.1686+1G>C | XP_011511775.1:n.1686+1G>C | |
| XM_011513474.1:c.1686+1G>C | XP_011511776.1:n.1686+1G>C | |
| XM_011513475.1:c.1467+1G>C | XP_011511777.1:n.1467+1G>C | |
| XM_011513476.1:c.1686+1G>C | XP_011511778.1:n.1686+1G>C | |
| XM_011513477.1:c.672+1G>C | XP_011511779.1:n.672+1G>C | |
| XM_011513478.1:c.396+1G>C | XP_011511780.1:n.396+1G>C | |
| NM_001350154.1:c.630+1G>C | NP_001337083.1:n.630+1G>C | |
| NM_001350155.1:c.312+1G>C | NP_001337084.1:n.312+1G>C | |
| XM_011513473.3:c.1686+1G>C | XP_011511775.1:n.1686+1G>C | |
| XM_011513474.3:c.1686+1G>C | XP_011511776.1:n.1686+1G>C | |
| XM_011513475.2:c.1467+1G>C | XP_011511777.1:n.1467+1G>C | |
| XM_011513476.3:c.1686+1G>C | XP_011511778.1:n.1686+1G>C | |
| XM_011513478.2:c.396+1G>C | XP_011511780.1:n.396+1G>C | |
| XM_017008284.1:c.630+1G>C | XP_016863773.1:n.630+1G>C | |
| XM_017008285.1:c.630+1G>C | XP_016863774.1:n.630+1G>C | |
| XM_017008286.1:c.630+1G>C | XP_016863775.1:n.630+1G>C | |
| NM_001350154.2:c.630+1G>C | NP_001337083.1:n.630+1G>C | |
| NM_001350155.2:c.312+1G>C | NP_001337084.1:n.312+1G>C | |
| NM_000283.4:c.1467+1G>C MANE Select | NP_000274.3:n.1467+1G>C | |
| NM_001145291.2:c.1467+1G>C | NP_001138763.2:n.1467+1G>C | |
| NM_001145292.2:c.630+1G>C | NP_001138764.2:n.630+1G>C | |
| NM_001350154.3:c.630+1G>C | NP_001337083.1:n.630+1G>C | |
| NM_001350155.3:c.312+1G>C | NP_001337084.1:n.312+1G>C | |
| NM_001379246.1:c.630+1G>C | NP_001366175.1:n.630+1G>C | |
| NM_001379247.1:c.630+1G>C | NP_001366176.1:n.630+1G>C |