Linked Data
ClinVar Variation Id:
1558740
ClinVar RCV Id:
RCV002200143
dbSNP Id:
rs866815271
gnomAD v2:
19-17940907-C-T
gnomAD v4:
19-17830098-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17830098C>T , CM000681.2:g.17830098C>T | GRCh38 |
| NC_000019.9:g.17940907C>T , CM000681.1:g.17940907C>T | GRCh37 |
| NC_000019.8:g.17801907C>T | NCBI36 |
| NG_007273.1:g.22894G>A , LRG_77:g.22894G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1764+10G>A | ENSP00000513006.1:n.*1764+10G>A | |
| ENST00000696967.1:n.2384+10G>A | ||
| ENST00000696968.1:n.440+10G>A | ||
| ENST00000696969.1:n.2164+10G>A | ||
| ENST00000458235.7:c.3207+10G>A MANE Select | ENSP00000391676.1:n.3207+10G>A | |
| ENST00000458235.5:c.3207+10G>A | ENSP00000391676.1:n.3207+10G>A | |
| ENST00000527031.5:n.2279-4788G>A | ||
| ENST00000527670.5:c.3207+10G>A | ENSP00000432511.1:n.3207+10G>A | |
| ENST00000534444.1:c.3217G>A | ENSP00000436421.1:p.Ala1073Thr | |
| NM_000215.3:c.3207+10G>A , LRG_77t1:c.3207+10G>A | NP_000206.2:n.3207+10G>A | |
| XM_005259896.2:c.3336+10G>A | XP_005259953.1:n.3336+10G>A | |
| XM_006722745.2:c.3207+10G>A | XP_006722808.1:n.3207+10G>A | |
| XM_005259896.3:c.3336+10G>A | XP_005259953.1:n.3336+10G>A | |
| NM_000215.4:c.3207+10G>A MANE Select | NP_000206.2:n.3207+10G>A |