Linked Data
ClinVar Variation Id:
138638
dbSNP Id:
rs201100689
ExAC:
4:629768 C / T
gnomAD v2:
4-629768-C-T
gnomAD v3:
4-635979-C-T
gnomAD v4:
4-635979-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.635979C>T , CM000666.2:g.635979C>T | GRCh38 |
| NC_000004.11:g.629768C>T , CM000666.1:g.629768C>T | GRCh37 |
| NC_000004.10:g.619768C>T | NCBI36 |
| NG_009839.1:g.15406C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.711+10C>T MANE Select | ENSP00000420295.1:n.711+10C>T | |
| ENST00000255622.10:c.711+10C>T | ENSP00000255622.6:n.711+10C>T | |
| ENST00000496514.5:c.711+10C>T | ENSP00000420295.1:n.711+10C>T | |
| NM_000283.3:c.711+10C>T | NP_000274.2:n.711+10C>T | |
| NM_001145291.1:c.711+10C>T | NP_001138763.1:n.711+10C>T | |
| XM_011513473.1:c.930+10C>T | XP_011511775.1:n.930+10C>T | |
| XM_011513474.1:c.930+10C>T | XP_011511776.1:n.930+10C>T | |
| XM_011513475.1:c.711+10C>T | XP_011511777.1:n.711+10C>T | |
| XM_011513476.1:c.930+10C>T | XP_011511778.1:n.930+10C>T | |
| XM_011513473.3:c.930+10C>T | XP_011511775.1:n.930+10C>T | |
| XM_011513474.3:c.930+10C>T | XP_011511776.1:n.930+10C>T | |
| XM_011513475.2:c.711+10C>T | XP_011511777.1:n.711+10C>T | |
| XM_011513476.3:c.930+10C>T | XP_011511778.1:n.930+10C>T | |
| NM_000283.4:c.711+10C>T MANE Select | NP_000274.3:n.711+10C>T | |
| NM_001145291.2:c.711+10C>T | NP_001138763.2:n.711+10C>T |