Linked Data
ClinVar Variation Id:
1538930
ClinVar RCV Id:
RCV002169488
dbSNP Id:
rs182097360
ExAC:
9:2645559 A / C
gnomAD v2:
9-2645559-A-C
gnomAD v3:
9-2645559-A-C
gnomAD v4:
9-2645559-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2645559A>C , CM000671.2:g.2645559A>C | GRCh38 |
| NC_000009.11:g.2645559A>C , CM000671.1:g.2645559A>C | GRCh37 |
| NC_000009.10:g.2635559A>C | NCBI36 |
| NG_012741.1:g.28767A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382099.3:c.871-15A>C | ||
| ENST00000382100.8:c.1313-15A>C MANE Select | ENSP00000371532.2:n.1313-15A>C | |
| ENST00000478776.2:n.758-15A>C | ||
| ENST00000679718.1:n.549-15A>C | ||
| ENST00000679750.1:n.729-15A>C | ||
| ENST00000679851.1:n.1497-15A>C | ||
| ENST00000680021.1:n.1513-15A>C | ||
| ENST00000680043.1:c.865-15A>C | ||
| ENST00000680219.1:c.865A>C | ||
| ENST00000680243.1:c.*1092-15A>C | ENSP00000505911.1:n.*1092-15A>C | |
| ENST00000680296.1:c.739-15A>C | ||
| ENST00000680332.1:n.396-15A>C | ||
| ENST00000680746.1:c.1190-15A>C | ENSP00000505030.1:n.1190-15A>C | |
| ENST00000680751.1:n.718-15A>C | ||
| ENST00000680891.1:c.*1105-15A>C | ENSP00000505167.1:n.*1105-15A>C | |
| ENST00000680975.1:n.698-15A>C | ||
| ENST00000681087.1:n.758-15A>C | ||
| ENST00000681306.1:c.1313-15A>C | ENSP00000506072.1:n.1313-15A>C | |
| ENST00000681618.1:c.1190-15A>C | ENSP00000505773.1:n.1190-15A>C | |
| ENST00000681644.1:c.*985-15A>C | ENSP00000505180.1:n.*985-15A>C | |
| ENST00000681806.1:c.1313-15A>C | ENSP00000505282.1:n.1313-15A>C | |
| ENST00000681942.1:c.861-15A>C | ||
| ENST00000382099.2:c.1313-15A>C | ENSP00000371531.2:n.1313-15A>C | |
| ENST00000382100.7:c.1313-15A>C | ENSP00000371532.2:n.1313-15A>C | |
| NM_001018056.1:c.1313-15A>C | NP_001018066.1:n.1313-15A>C | |
| NM_003383.3:c.1313-15A>C | NP_003374.3:n.1313-15A>C | |
| XM_011518029.1:c.1190-15A>C | XP_011516331.1:n.1190-15A>C | |
| NM_001018056.2:c.1313-15A>C | NP_001018066.1:n.1313-15A>C | |
| NM_001322225.1:c.1190-15A>C | NP_001309154.1:n.1190-15A>C | |
| NM_001322226.1:c.1190-15A>C | NP_001309155.1:n.1190-15A>C | |
| NM_003383.4:c.1313-15A>C | NP_003374.3:n.1313-15A>C | |
| XR_001746373.2:n.1717-15A>C | ||
| XR_002956805.1:n.1717-15A>C | ||
| NM_003383.5:c.1313-15A>C MANE Select | NP_003374.3:n.1313-15A>C | |
| NM_001018056.3:c.1313-15A>C | NP_001018066.1:n.1313-15A>C | |
| NM_001322225.2:c.1190-15A>C | NP_001309154.1:n.1190-15A>C | |
| NM_001322226.2:c.1190-15A>C | NP_001309155.1:n.1190-15A>C |