Linked Data
dbSNP Id:
rs17293443
gnomAD v2:
15-67437863-T-C
gnomAD v3:
15-67145525-T-C
gnomAD v4:
15-67145525-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67145525T>C , CM000677.2:g.67145525T>C | GRCh38 |
| NC_000015.9:g.67437863T>C , CM000677.1:g.67437863T>C | GRCh37 |
| NC_000015.8:g.65224917T>C | NCBI36 |
| NG_011990.1:g.84669T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558739.2:c.-110+7003T>C | ENSP00000453684.2:n.-110+7003T>C | |
| ENST00000559460.6:c.-109-19370T>C | ENSP00000453082.2:n.-109-19370T>C | |
| ENST00000560424.2:c.207-19370T>C | ENSP00000455540.2:n.207-19370T>C | |
| ENST00000327367.9:c.207-19370T>C MANE Select | ENSP00000332973.4:n.207-19370T>C | |
| ENST00000679624.1:c.-109-19370T>C | ENSP00000505445.1:n.-109-19370T>C | |
| ENST00000681239.1:c.-110+5803T>C | ENSP00000505641.1:n.-110+5803T>C | |
| ENST00000327367.8:c.207-19370T>C | ENSP00000332973.4:n.207-19370T>C | |
| ENST00000439724.7:c.74+7425T>C | ENSP00000401133.3:n.74+7425T>C | |
| ENST00000540846.6:c.-109-19370T>C | ENSP00000437757.2:n.-109-19370T>C | |
| ENST00000558739.1:c.-110+7003T>C | ENSP00000453684.1:n.-110+7003T>C | |
| ENST00000558894.5:c.-110+17374T>C | ENSP00000458060.1:n.-110+17374T>C | |
| ENST00000559092.1:c.152-19370T>C | ENSP00000453788.1:n.152-19370T>C | |
| ENST00000559460.5:c.-109-19370T>C | ENSP00000453082.1:n.-109-19370T>C | |
| ENST00000559937.1:n.57-19370T>C | ||
| ENST00000560175.5:c.-109-19370T>C | ENSP00000455095.1:n.-109-19370T>C | |
| NM_001145102.1:c.-109-19370T>C | NP_001138574.1:n.-109-19370T>C | |
| NM_001145103.1:c.74+7425T>C | NP_001138575.1:n.74+7425T>C | |
| NM_005902.3:c.207-19370T>C | NP_005893.1:n.207-19370T>C | |
| XM_011521559.1:c.207-19370T>C | XP_011519861.1:n.207-19370T>C | |
| XM_011521560.1:c.60-19370T>C | XP_011519862.1:n.60-19370T>C | |
| XM_011521559.3:c.207-19370T>C | XP_011519861.1:n.207-19370T>C | |
| NM_005902.4:c.207-19370T>C MANE Select | NP_005893.1:n.207-19370T>C | |
| NM_001145102.2:c.-109-19370T>C | NP_001138574.1:n.-109-19370T>C | |
| NM_001145103.2:c.74+7425T>C | NP_001138575.1:n.74+7425T>C |