Linked Data
dbSNP Id:
rs373600604
gnomAD v2:
19-1399217-C-A
gnomAD v3:
19-1399218-C-A
gnomAD v4:
19-1399218-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399218C>A , CM000681.2:g.1399218C>A | GRCh38 |
| NC_000019.9:g.1399217C>A , CM000681.1:g.1399217C>A | GRCh37 |
| NC_000019.8:g.1350217C>A | NCBI36 |
| NG_009785.1:g.7336G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.392-23G>T MANE Select | ENSP00000252288.1:n.392-23G>T | |
| ENST00000447102.8:c.392-23G>T | ENSP00000403536.2:n.392-23G>T | |
| ENST00000591788.3:c.75-23G>T | ||
| ENST00000640164.1:n.225-23G>T | ||
| ENST00000640762.1:c.323-23G>T | ENSP00000492031.1:n.323-23G>T | |
| ENST00000252288.6:c.392-23G>T | ENSP00000252288.1:n.392-23G>T | |
| ENST00000447102.7:c.392-23G>T | ENSP00000403536.2:n.392-23G>T | |
| ENST00000591788.2:c.77-23G>T | ENSP00000466341.2:n.77-23G>T | |
| NM_000156.5:c.392-23G>T | NP_000147.1:n.392-23G>T | |
| NM_138924.2:c.392-23G>T | NP_620279.1:n.392-23G>T | |
| NM_000156.6:c.392-23G>T MANE Select | NP_000147.1:n.392-23G>T | |
| NM_138924.3:c.392-23G>T | NP_620279.1:n.392-23G>T |