Linked Data
ClinVar Variation Id:
1302172
ClinVar RCV Id:
RCV001754061
dbSNP Id:
rs373042571
ExAC:
12:116450558 G / A
gnomAD v2:
12-116450558-G-A
gnomAD v3:
12-116012753-G-A
gnomAD v4:
12-116012753-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116012753G>A , CM000674.2:g.116012753G>A | GRCh38 |
| NC_000012.11:g.116450558G>A , CM000674.1:g.116450558G>A | GRCh37 |
| NC_000012.10:g.114934941G>A | NCBI36 |
| NG_023366.1:g.269434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.1280+44C>T MANE Select | ENSP00000281928.3:n.1280+44C>T | |
| ENST00000548743.2:c.1250+44C>T | ENSP00000448553.2:n.1250+44C>T | |
| ENST00000549786.2:c.708+44C>T | ||
| ENST00000647567.1:c.1187+44C>T | ENSP00000497136.1:n.1187+44C>T | |
| ENST00000648737.1:n.1044+44C>T | ||
| ENST00000650226.1:c.1280+44C>T | ENSP00000496981.1:n.1280+44C>T | |
| ENST00000281928.7:c.1280+44C>T | ENSP00000281928.3:n.1280+44C>T | |
| NM_015335.4:c.1280+44C>T | NP_056150.1:n.1280+44C>T | |
| XM_011538080.1:c.1280+44C>T | XP_011536382.1:n.1280+44C>T | |
| XM_011538081.1:c.1280+44C>T | XP_011536383.1:n.1280+44C>T | |
| XM_011538082.1:c.1250+44C>T | XP_011536384.1:n.1250+44C>T | |
| XM_011538080.2:c.1280+44C>T | XP_011536382.1:n.1280+44C>T | |
| XM_011538081.2:c.1280+44C>T | XP_011536383.1:n.1280+44C>T | |
| XM_011538082.2:c.1250+44C>T | XP_011536384.1:n.1250+44C>T | |
| XM_017019090.1:c.1280+44C>T | XP_016874579.1:n.1280+44C>T | |
| NM_015335.5:c.1280+44C>T MANE Select | NP_056150.1:n.1280+44C>T |