Linked Data
ClinVar Variation Id:
2926006
ClinVar RCV Id:
RCV003786292
dbSNP Id:
rs768077700
ExAC:
12:102155561 T / A
gnomAD v2:
12-102155561-T-A
gnomAD v4:
12-101761783-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761783T>A , CM000674.2:g.101761783T>A | GRCh38 |
| NC_000012.11:g.102155561T>A , CM000674.1:g.102155561T>A | GRCh37 |
| NC_000012.10:g.100679692T>A | NCBI36 |
| NG_021243.1:g.74085A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2716-20A>T MANE Select | ENSP00000299314.7:n.2716-20A>T | |
| ENST00000299314.11:c.2716-20A>T | ENSP00000299314.7:n.2716-20A>T | |
| NM_024312.4:c.2716-20A>T | NP_077288.2:n.2716-20A>T | |
| XM_006719593.2:c.2716-20A>T | XP_006719656.1:n.2716-20A>T | |
| XM_011538731.1:c.2635-20A>T | XP_011537033.1:n.2635-20A>T | |
| XM_006719593.3:c.2716-20A>T | XP_006719656.1:n.2716-20A>T | |
| XM_011538731.2:c.2635-20A>T | XP_011537033.1:n.2635-20A>T | |
| XM_017019961.1:c.2500-20A>T | XP_016875450.1:n.2500-20A>T | |
| XM_017019962.2:c.1489-20A>T | XP_016875451.1:n.1489-20A>T | |
| NM_024312.5:c.2716-20A>T MANE Select | NP_077288.2:n.2716-20A>T |