Linked Data
ClinVar Variation Id:
1568387
ClinVar RCV Id:
RCV002217006
dbSNP Id:
rs1006106723
gnomAD v2:
12-102155554-T-A
gnomAD v3:
12-101761776-T-A
gnomAD v4:
12-101761776-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761776T>A , CM000674.2:g.101761776T>A | GRCh38 |
| NC_000012.11:g.102155554T>A , CM000674.1:g.102155554T>A | GRCh37 |
| NC_000012.10:g.100679685T>A | NCBI36 |
| NG_021243.1:g.74092A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2716-13A>T MANE Select | ENSP00000299314.7:n.2716-13A>T | |
| ENST00000299314.11:c.2716-13A>T | ENSP00000299314.7:n.2716-13A>T | |
| NM_024312.4:c.2716-13A>T | NP_077288.2:n.2716-13A>T | |
| XM_006719593.2:c.2716-13A>T | XP_006719656.1:n.2716-13A>T | |
| XM_011538731.1:c.2635-13A>T | XP_011537033.1:n.2635-13A>T | |
| XM_006719593.3:c.2716-13A>T | XP_006719656.1:n.2716-13A>T | |
| XM_011538731.2:c.2635-13A>T | XP_011537033.1:n.2635-13A>T | |
| XM_017019961.1:c.2500-13A>T | XP_016875450.1:n.2500-13A>T | |
| XM_017019962.2:c.1489-13A>T | XP_016875451.1:n.1489-13A>T | |
| NM_024312.5:c.2716-13A>T MANE Select | NP_077288.2:n.2716-13A>T |