Linked Data
ClinVar Variation Id:
126530
ClinVar RCV Id:
RCV000114421
dbSNP Id:
rs587777295
ExAC:
3:119209396 A / C
gnomAD v2:
3-119209396-A-C
gnomAD v3:
3-119490549-A-C
gnomAD v4:
3-119490549-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119490549A>C , CM000665.2:g.119490549A>C | GRCh38 |
| NC_000003.11:g.119209396A>C , CM000665.1:g.119209396A>C | GRCh37 |
| NC_000003.10:g.120692086A>C | NCBI36 |
| NG_034115.1:g.26612A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295588.9:c.798-2A>C MANE Select | ENSP00000295588.4:n.798-2A>C | |
| ENST00000647766.1:c.*518-2A>C | ENSP00000498165.1:n.*518-2A>C | |
| ENST00000295588.8:c.798-2A>C | ENSP00000295588.4:n.798-2A>C | |
| ENST00000473648.1:n.2507A>C | ||
| ENST00000486607.5:c.*449-2A>C | ENSP00000419876.1:n.*449-2A>C | |
| ENST00000497447.5:c.*622-2A>C | ENSP00000419288.1:n.*622-2A>C | |
| NM_152305.2:c.798-2A>C | NP_689518.1:n.798-2A>C | |
| NR_024265.1:n.1025-2A>C | ||
| XM_006713704.2:c.321-2A>C | XP_006713767.1:n.321-2A>C | |
| XM_006713705.2:c.321-2A>C | XP_006713768.1:n.321-2A>C | |
| XM_006713705.3:c.321-2A>C | XP_006713768.1:n.321-2A>C | |
| XM_017006878.2:c.321-2A>C | XP_016862367.1:n.321-2A>C | |
| XM_017006879.1:c.321-2A>C | XP_016862368.1:n.321-2A>C | |
| XM_024453643.1:c.321-2A>C | XP_024309411.1:n.321-2A>C | |
| XR_001740211.2:n.961-2A>C | ||
| XR_001740212.2:n.1003-2A>C | ||
| NM_152305.3:c.798-2A>C MANE Select | NP_689518.1:n.798-2A>C | |
| NR_024265.2:n.1000-2A>C |