Linked Data
ClinVar Variation Id:
1330668
dbSNP Id:
rs763321881
ExAC:
15:67358709 G / T
gnomAD v2:
15-67358709-G-T
gnomAD v3:
15-67066371-G-T
gnomAD v4:
15-67066371-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67066371G>T , CM000677.2:g.67066371G>T | GRCh38 |
| NC_000015.9:g.67358709G>T , CM000677.1:g.67358709G>T | GRCh37 |
| NC_000015.8:g.65145763G>T | NCBI36 |
| NG_011990.1:g.5515G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559460.6:c.-110+2427G>T | ENSP00000453082.2:n.-110+2427G>T | |
| ENST00000560424.2:c.206+11G>T | ENSP00000455540.2:n.206+11G>T | |
| ENST00000327367.9:c.206+11G>T MANE Select | ENSP00000332973.4:n.206+11G>T | |
| ENST00000327367.8:c.206+11G>T | ENSP00000332973.4:n.206+11G>T | |
| ENST00000559460.5:c.-110+2427G>T | ENSP00000453082.1:n.-110+2427G>T | |
| NM_005902.3:c.206+11G>T | NP_005893.1:n.206+11G>T | |
| XM_011521559.1:c.206+11G>T | XP_011519861.1:n.206+11G>T | |
| XM_011521559.3:c.206+11G>T | XP_011519861.1:n.206+11G>T | |
| NM_005902.4:c.206+11G>T MANE Select | NP_005893.1:n.206+11G>T |