Linked Data
ClinVar Variation Id:
569139
ClinVar RCV Id:
RCV000689697
dbSNP Id:
rs1555286568
gnomAD v4:
13-48380051-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380051A>C , CM000675.2:g.48380051A>C | GRCh38 |
| NC_000013.10:g.48954187A>C , CM000675.1:g.48954187A>C | GRCh37 |
| NC_000013.9:g.47852188A>C | NCBI36 |
| NG_009009.1:g.81305A>C , LRG_517:g.81305A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1390-2A>C MANE Select | ENSP00000267163.4:n.1390-2A>C | |
| ENST00000650461.1:c.1390-2A>C | ENSP00000497193.1:n.1390-2A>C | |
| ENST00000267163.4:c.1390-2A>C | ENSP00000267163.4:n.1390-2A>C | |
| NM_000321.2:c.1390-2A>C , LRG_517t1:c.1390-2A>C | NP_000312.2:n.1390-2A>C | |
| XM_011535171.1:c.1129-2A>C | XP_011533473.1:n.1129-2A>C | |
| XM_011535171.2:c.1129-2A>C | XP_011533473.1:n.1129-2A>C | |
| NM_000321.3:c.1390-2A>C MANE Select | NP_000312.2:n.1390-2A>C |