Linked Data
ClinVar Variation Id:
1621702
ClinVar RCV Id:
RCV002094280
dbSNP Id:
rs374426800
ExAC:
2:189854190 C / T
gnomAD v2:
2-189854190-C-T
gnomAD v3:
2-188989464-C-T
gnomAD v4:
2-188989464-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188989464C>T , CM000664.2:g.188989464C>T | GRCh38 |
| NC_000002.11:g.189854190C>T , CM000664.1:g.189854190C>T | GRCh37 |
| NC_000002.10:g.189562435C>T | NCBI36 |
| NG_007404.1:g.20092C>T , LRG_3:g.20092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.690+15C>T | ENSP00000415346.2:n.690+15C>T | |
| ENST00000304636.9:c.690+15C>T MANE Select | ENSP00000304408.4:n.690+15C>T | |
| ENST00000304636.7:c.690+15C>T | ENSP00000304408.3:n.690+15C>T | |
| ENST00000317840.9:c.690+15C>T | ENSP00000315243.6:n.690+15C>T | |
| NM_000090.3:c.690+15C>T , LRG_3t1:c.690+15C>T | NP_000081.1:n.690+15C>T | |
| NM_000090.4:c.690+15C>T MANE Select | NP_000081.2:n.690+15C>T |