Linked Data
dbSNP Id:
rs780501942
ExAC:
19:50365421 G / A
gnomAD v2:
19-50365421-G-A
gnomAD v4:
19-49862164-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49862164G>A , CM000681.2:g.49862164G>A | GRCh38 |
| NC_000019.9:g.50365421G>A , CM000681.1:g.50365421G>A | GRCh37 |
| NC_000019.8:g.55057233G>A | NCBI36 |
| NG_027717.1:g.10402C>T | |
| NG_050666.1:g.18321G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1126+21C>T MANE Select | ENSP00000323511.2:n.1126+21C>T | |
| ENST00000322344.7:c.1126+21C>T | ENSP00000323511.2:n.1126+21C>T | |
| ENST00000593706.3:n.502C>T | ||
| ENST00000593946.5:c.*1053+21C>T | ENSP00000468896.1:n.*1053+21C>T | |
| ENST00000594661.5:n.1627+21C>T | ||
| ENST00000596014.5:c.1126+21C>T | ENSP00000472300.1:n.1126+21C>T | |
| ENST00000600573.5:c.1033+21C>T | ENSP00000469826.1:n.1033+21C>T | |
| ENST00000600910.5:c.1126+21C>T | ENSP00000473137.1:n.1126+21C>T | |
| ENST00000601816.3:n.25+21C>T | ||
| ENST00000625216.2:c.208-59C>T | ENSP00000486898.1:n.208-59C>T | |
| ENST00000627232.2:c.1046+21C>T | ENSP00000486037.1:n.1046+21C>T | |
| ENST00000627317.1:c.747+21C>T | ||
| ENST00000631020.2:c.1018+21C>T | ENSP00000486707.1:n.1018+21C>T | |
| NM_007254.3:c.1126+21C>T | NP_009185.2:n.1126+21C>T | |
| NM_007254.4:c.1126+21C>T MANE Select | NP_009185.2:n.1126+21C>T |