Linked Data
ClinVar Variation Id:
1066749
ClinVar RCV Id:
RCV001377835
dbSNP Id:
rs138121153
ExAC:
9:104190750 C / A
gnomAD v2:
9-104190750-C-A
gnomAD v3:
9-101428468-C-A
gnomAD v4:
9-101428468-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101428468C>A , CM000671.2:g.101428468C>A | GRCh38 |
| NC_000009.11:g.104190750C>A , CM000671.1:g.104190750C>A | GRCh37 |
| NC_000009.10:g.103230571C>A | NCBI36 |
| NG_012387.1:g.12313G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.379+1G>T MANE Select | ENSP00000497767.1:n.379+1G>T | |
| ENST00000648064.1:c.379+1G>T | ENSP00000497990.1:n.379+1G>T | |
| ENST00000648758.1:c.379+1G>T | ENSP00000497731.1:n.379+1G>T | |
| ENST00000649902.1:c.379+1G>T | ENSP00000497216.1:n.379+1G>T | |
| ENST00000374855.8:c.379+1G>T | ENSP00000363988.4:n.379+1G>T | |
| ENST00000468981.3:n.67+1341G>T | ||
| ENST00000616752.1:c.379+1G>T | ENSP00000481363.1:n.379+1G>T | |
| NM_000035.3:c.379+1G>T | NP_000026.2:n.379+1G>T | |
| NM_000035.4:c.379+1G>T MANE Select | NP_000026.2:n.379+1G>T |