Linked Data
ClinVar Variation Id:
1126784
ClinVar RCV Id:
RCV001458943
dbSNP Id:
rs532174212
gnomAD v3:
12-101796667-T-G
gnomAD v4:
12-101796667-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101796667T>G , CM000674.2:g.101796667T>G | GRCh38 |
| NC_000012.11:g.102190445T>G , CM000674.1:g.102190445T>G | GRCh37 |
| NC_000012.10:g.100714576T>G | NCBI36 |
| NG_021243.1:g.39201A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.203+10A>C MANE Select | ENSP00000299314.7:n.203+10A>C | |
| ENST00000647144.1:n.323+10A>C | ||
| ENST00000299314.11:c.203+10A>C | ENSP00000299314.7:n.203+10A>C | |
| ENST00000392919.4:c.203+10A>C | ENSP00000376651.4:n.203+10A>C | |
| ENST00000549165.1:c.*6A>C | ENSP00000450413.1:n.*6A>C | |
| ENST00000549940.5:c.203+10A>C | ENSP00000449150.1:n.203+10A>C | |
| NM_024312.4:c.203+10A>C | NP_077288.2:n.203+10A>C | |
| XM_006719593.2:c.203+10A>C | XP_006719656.1:n.203+10A>C | |
| XM_011538731.1:c.122+10A>C | XP_011537033.1:n.122+10A>C | |
| XM_006719593.3:c.203+10A>C | XP_006719656.1:n.203+10A>C | |
| XM_011538731.2:c.122+10A>C | XP_011537033.1:n.122+10A>C | |
| XM_017019961.1:c.-14+10A>C | XP_016875450.1:n.-14+10A>C | |
| XM_017019962.2:c.-1148+10A>C | XP_016875451.1:n.-1148+10A>C | |
| NM_024312.5:c.203+10A>C MANE Select | NP_077288.2:n.203+10A>C |