Linked Data
ClinVar Variation Id:
505117
ClinVar RCV Id:
RCV000612771
dbSNP Id:
rs888830612
gnomAD v4:
3-49124700-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49124700C>A , CM000665.2:g.49124700C>A | GRCh38 |
| NC_000003.11:g.49162133C>A , CM000665.1:g.49162133C>A | GRCh37 |
| NC_000003.10:g.49137137C>A | NCBI36 |
| NG_008094.1:g.13467G>T | |
| NG_054716.1:g.1239G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.3109+1G>T MANE Select | ENSP00000307156.4:n.3109+1G>T | |
| ENST00000305544.8:c.3109+1G>T | ENSP00000307156.4:n.3109+1G>T | |
| ENST00000418109.5:c.3109+1G>T | ENSP00000388325.1:n.3109+1G>T | |
| ENST00000462930.5:n.517G>T | ||
| ENST00000542580.1:n.424+1G>T | ||
| NM_002292.3:c.3109+1G>T | NP_002283.3:n.3109+1G>T | |
| XM_005265127.3:c.3109+1G>T | XP_005265184.1:n.3109+1G>T | |
| XM_005265127.4:c.3109+1G>T | XP_005265184.1:n.3109+1G>T | |
| NM_002292.4:c.3109+1G>T MANE Select | NP_002283.3:n.3109+1G>T |