Linked Data
ClinVar Variation Id:
1355984
ClinVar RCV Id:
RCV001867210
dbSNP Id:
rs766980401
gnomAD v3:
12-101770599-T-C
gnomAD v4:
12-101770599-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770599T>C , CM000674.2:g.101770599T>C | GRCh38 |
| NC_000012.11:g.102164377T>C , CM000674.1:g.102164377T>C | GRCh37 |
| NC_000012.10:g.100688508T>C | NCBI36 |
| NG_021243.1:g.65269A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.934-14A>G MANE Select | ENSP00000299314.7:n.934-14A>G | |
| ENST00000299314.11:c.934-14A>G | ENSP00000299314.7:n.934-14A>G | |
| ENST00000549940.5:c.934-14A>G | ENSP00000449150.1:n.934-14A>G | |
| NM_024312.4:c.934-14A>G | NP_077288.2:n.934-14A>G | |
| XM_006719593.2:c.934-14A>G | XP_006719656.1:n.934-14A>G | |
| XM_011538731.1:c.853-14A>G | XP_011537033.1:n.853-14A>G | |
| XM_006719593.3:c.934-14A>G | XP_006719656.1:n.934-14A>G | |
| XM_011538731.2:c.853-14A>G | XP_011537033.1:n.853-14A>G | |
| XM_017019961.1:c.718-14A>G | XP_016875450.1:n.718-14A>G | |
| XM_017019962.2:c.-308A>G | XP_016875451.1:n.-308A>G | |
| NM_024312.5:c.934-14A>G MANE Select | NP_077288.2:n.934-14A>G |