Linked Data
ClinVar Variation Id:
1564047
ClinVar RCV Id:
RCV002209696
dbSNP Id:
rs886048854
gnomAD v4:
12-101830544-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101830544G>C , CM000674.2:g.101830544G>C | GRCh38 |
| NC_000012.11:g.102224322G>C , CM000674.1:g.102224322G>C | GRCh37 |
| NC_000012.10:g.100748453G>C | NCBI36 |
| NG_021243.1:g.5324C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.117+15C>G MANE Select | ENSP00000299314.7:n.117+15C>G | |
| ENST00000647144.1:n.105+15C>G | ||
| ENST00000299314.11:c.117+15C>G | ENSP00000299314.7:n.117+15C>G | |
| ENST00000392919.4:c.117+15C>G | ENSP00000376651.4:n.117+15C>G | |
| ENST00000549165.1:c.117+15C>G | ENSP00000450413.1:n.117+15C>G | |
| ENST00000549940.5:c.117+15C>G | ENSP00000449150.1:n.117+15C>G | |
| NM_024312.4:c.117+15C>G | NP_077288.2:n.117+15C>G | |
| XM_006719593.2:c.117+15C>G | XP_006719656.1:n.117+15C>G | |
| XM_006719593.3:c.117+15C>G | XP_006719656.1:n.117+15C>G | |
| XM_017019961.1:c.-100+82C>G | XP_016875450.1:n.-100+82C>G | |
| XM_017019962.2:c.-1234+15C>G | XP_016875451.1:n.-1234+15C>G | |
| NM_024312.5:c.117+15C>G MANE Select | NP_077288.2:n.117+15C>G |