Linked Data
ClinVar Variation Id:
2169068
ClinVar RCV Id:
RCV003093065
dbSNP Id:
rs746506993
ExAC:
15:90631800 C / G
gnomAD v2:
15-90631800-C-G
gnomAD v3:
15-90088568-C-G
gnomAD v4:
15-90088568-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088568C>G , CM000677.2:g.90088568C>G | GRCh38 |
| NC_000015.9:g.90631800C>G , CM000677.1:g.90631800C>G | GRCh37 |
| NC_000015.8:g.88432804C>G | NCBI36 |
| NG_023302.1:g.18909G>C , LRG_611:g.18909G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.534+19G>C MANE Select | ENSP00000331897.4:n.534+19G>C | |
| ENST00000330062.7:c.534+19G>C | ENSP00000331897.3:n.534+19G>C | |
| ENST00000540499.2:c.378+19G>C | ENSP00000446147.2:n.378+19G>C | |
| ENST00000559482.5:c.208-66G>C | ENSP00000453016.1:n.208-66G>C | |
| ENST00000560061.1:c.*159+19G>C | ENSP00000453254.1:n.*159+19G>C | |
| NM_001289910.1:c.378+19G>C , LRG_611t1:c.378+19G>C | NP_001276839.1:n.378+19G>C | |
| NM_001290114.1:c.144+19G>C | NP_001277043.1:n.144+19G>C | |
| NM_002168.3:c.534+19G>C , LRG_611t2:c.534+19G>C | NP_002159.2:n.534+19G>C | |
| NM_001290114.2:c.144+19G>C | NP_001277043.1:n.144+19G>C | |
| NM_002168.4:c.534+19G>C MANE Select | NP_002159.2:n.534+19G>C |