Linked Data
dbSNP Id:
rs1182391428
gnomAD v2:
19-45910267-T-G
gnomAD v3:
19-45407009-T-G
gnomAD v4:
19-45407009-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45407009T>G , CM000681.2:g.45407009T>G | GRCh38 |
| NC_000019.9:g.45910267T>G , CM000681.1:g.45910267T>G | GRCh37 |
| NC_000019.8:g.50602107T>G | NCBI36 |
| NG_015839.2:g.76820A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309424.8:c.23-85T>G MANE Select | ENSP00000310966.3:n.23-85T>G | |
| ENST00000309424.7:c.23-85T>G | ENSP00000310966.3:n.23-85T>G | |
| ENST00000589804.1:c.29-85T>G | ENSP00000465099.1:n.29-85T>G | |
| ENST00000590794.1:c.20+291T>G | ||
| ENST00000592852.1:c.-597T>G | ENSP00000467771.1:n.-597T>G | |
| NM_001297590.1:c.29-85T>G | NP_001284519.1:n.29-85T>G | |
| NM_012099.1:c.23-85T>G | NP_036231.1:n.23-85T>G | |
| NM_001297590.2:c.29-85T>G | NP_001284519.1:n.29-85T>G | |
| NM_012099.2:c.23-85T>G | NP_036231.1:n.23-85T>G | |
| NM_001297590.3:c.29-85T>G | NP_001284519.1:n.29-85T>G | |
| NM_012099.3:c.23-85T>G MANE Select | NP_036231.1:n.23-85T>G |