Linked Data
ClinVar Variation Id:
288747
dbSNP Id:
rs201870319
ExAC:
4:663834 G / C
gnomAD v2:
4-663834-G-C
gnomAD v3:
4-670045-G-C
gnomAD v4:
4-670045-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.670045G>C , CM000666.2:g.670045G>C | GRCh38 |
| NC_000004.11:g.663834G>C , CM000666.1:g.663834G>C | GRCh37 |
| NC_000004.10:g.653834G>C | NCBI36 |
| NG_009839.1:g.49472G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.2504-1G>C MANE Select | ENSP00000420295.1:n.2504-1G>C | |
| ENST00000255622.10:c.2504-4G>C | ENSP00000255622.6:n.2504-4G>C | |
| ENST00000429163.6:c.1667-1G>C | ENSP00000406334.2:n.1667-1G>C | |
| ENST00000461490.1:c.281-1G>C | ||
| ENST00000471824.6:c.433-1G>C | ENSP00000417852.2:n.433-1G>C | |
| ENST00000496514.5:c.2504-1G>C | ENSP00000420295.1:n.2504-1G>C | |
| NM_000283.3:c.2504-1G>C | NP_000274.2:n.2504-1G>C | |
| NM_001145291.1:c.2504-4G>C | NP_001138763.1:n.2504-4G>C | |
| NM_001145292.1:c.1667-1G>C | NP_001138764.1:n.1667-1G>C | |
| XM_011513473.1:c.2658-1G>C | XP_011511775.1:n.2658-1G>C | |
| XM_011513474.1:c.2723-1G>C | XP_011511776.1:n.2723-1G>C | |
| XM_011513475.1:c.2439-1G>C | XP_011511777.1:n.2439-1G>C | |
| XM_011513476.1:c.2572-1G>C | XP_011511778.1:n.2572-1G>C | |
| XM_011513477.1:c.1644-1G>C | XP_011511779.1:n.1644-1G>C | |
| XM_011513478.1:c.1368-1G>C | XP_011511780.1:n.1368-1G>C | |
| NM_001350154.1:c.1602-1G>C | NP_001337083.1:n.1602-1G>C | |
| NM_001350155.1:c.1284-1G>C | NP_001337084.1:n.1284-1G>C | |
| XM_011513473.3:c.2658-1G>C | XP_011511775.1:n.2658-1G>C | |
| XM_011513474.3:c.2723-1G>C | XP_011511776.1:n.2723-1G>C | |
| XM_011513475.2:c.2439-1G>C | XP_011511777.1:n.2439-1G>C | |
| XM_011513476.3:c.2572-1G>C | XP_011511778.1:n.2572-1G>C | |
| XM_011513478.2:c.1368-1G>C | XP_011511780.1:n.1368-1G>C | |
| XM_017008284.1:c.1602-1G>C | XP_016863773.1:n.1602-1G>C | |
| XM_017008285.1:c.1667-1G>C | XP_016863774.1:n.1667-1G>C | |
| XM_017008286.1:c.1667-1G>C | XP_016863775.1:n.1667-1G>C | |
| NM_001350154.2:c.1602-1G>C | NP_001337083.1:n.1602-1G>C | |
| NM_001350155.2:c.1284-1G>C | NP_001337084.1:n.1284-1G>C | |
| NM_000283.4:c.2504-1G>C MANE Select | NP_000274.3:n.2504-1G>C | |
| NM_001145291.2:c.2504-4G>C | NP_001138763.2:n.2504-4G>C | |
| NM_001145292.2:c.1667-1G>C | NP_001138764.2:n.1667-1G>C | |
| NM_001350154.3:c.1602-1G>C | NP_001337083.1:n.1602-1G>C | |
| NM_001350155.3:c.1284-1G>C | NP_001337084.1:n.1284-1G>C | |
| NM_001379246.1:c.1667-1G>C | NP_001366175.1:n.1667-1G>C | |
| NM_001379247.1:c.1667-1G>C | NP_001366176.1:n.1667-1G>C |