Linked Data
dbSNP Id:
rs748674099
ExAC:
19:45910545 G / A
gnomAD v2:
19-45910545-G-A
gnomAD v4:
19-45407287-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45407287G>A , CM000681.2:g.45407287G>A | GRCh38 |
| NC_000019.9:g.45910545G>A , CM000681.1:g.45910545G>A | GRCh37 |
| NC_000019.8:g.50602385G>A | NCBI36 |
| NG_015839.2:g.76542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309424.8:c.164+52G>A MANE Select | ENSP00000310966.3:n.164+52G>A | |
| ENST00000309424.7:c.164+52G>A | ENSP00000310966.3:n.164+52G>A | |
| ENST00000589804.1:c.170+52G>A | ENSP00000465099.1:n.170+52G>A | |
| ENST00000590794.1:c.20+569G>A | ||
| ENST00000592852.1:c.-371+52G>A | ENSP00000467771.1:n.-371+52G>A | |
| NM_001297590.1:c.170+52G>A | NP_001284519.1:n.170+52G>A | |
| NM_012099.1:c.164+52G>A | NP_036231.1:n.164+52G>A | |
| NM_001297590.2:c.170+52G>A | NP_001284519.1:n.170+52G>A | |
| NM_012099.2:c.164+52G>A | NP_036231.1:n.164+52G>A | |
| NM_001297590.3:c.170+52G>A | NP_001284519.1:n.170+52G>A | |
| NM_012099.3:c.164+52G>A MANE Select | NP_036231.1:n.164+52G>A |