Linked Data
ClinVar Variation Id:
1625984
ClinVar RCV Id:
RCV002110436
dbSNP Id:
rs2116763618
gnomAD v4:
7-66633258-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66633258T>A , CM000669.2:g.66633258T>A | GRCh38 |
| NC_000007.13:g.66098245T>A , CM000669.1:g.66098245T>A | GRCh37 |
| NC_000007.12:g.65735680T>A | NCBI36 |
| NG_028110.1:g.9378T>A | |
| NG_028110.2:g.9378T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.145-17T>A | ENSP00000275532.4:n.145-17T>A | |
| ENST00000449064.6:c.123-17T>A | ||
| ENST00000503687.2:c.144+4050T>A | ENSP00000421074.1:n.144+4050T>A | |
| ENST00000638524.1:c.139+4050T>A | ||
| ENST00000638540.1:c.118+4050T>A | ||
| ENST00000639828.2:c.145-17T>A MANE Select | ENSP00000492240.1:n.145-17T>A | |
| ENST00000639879.1:c.145-17T>A | ENSP00000492161.1:n.145-17T>A | |
| ENST00000640234.1:c.15-17T>A | ||
| ENST00000640385.1:c.145-17T>A | ENSP00000491193.1:n.145-17T>A | |
| ENST00000640851.1:c.145-17T>A | ENSP00000492577.1:n.145-17T>A | |
| ENST00000275532.7:c.145-17T>A | ENSP00000275532.3:n.145-17T>A | |
| ENST00000443322.1:c.145-17T>A | ENSP00000411624.1:n.145-17T>A | |
| ENST00000449064.5:c.144+4050T>A | ENSP00000388463.1:n.144+4050T>A | |
| ENST00000503687.1:c.144+4050T>A | ENSP00000421074.1:n.144+4050T>A | |
| NM_001167961.2:c.145-17T>A | NP_001161433.1:n.145-17T>A | |
| NM_153033.4:c.145-17T>A | NP_694578.1:n.145-17T>A | |
| NM_153033.5:c.145-17T>A MANE Select | NP_694578.1:n.145-17T>A |