Linked Data
gnomAD v4:
19-40285352-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285352C>A , CM000681.2:g.40285352C>A | GRCh38 |
| NC_000019.9:g.40791259C>A , CM000681.1:g.40791259C>A | GRCh37 |
| NC_000019.8:g.45483099C>A | NCBI36 |
| NG_012038.2:g.5007G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391844.8:c.-302G>T | ENSP00000375719.4:n.-302G>T | |
| ENST00000392038.6:c.-256G>T | ENSP00000375892.2:n.-256G>T | |
| ENST00000424901.5:c.-256G>T | ENSP00000399532.2:n.-256G>T | |
| ENST00000578123.5:c.-85+96G>T | ENSP00000462022.1:n.-85+96G>T | |
| NM_001243027.2:c.-405G>T | NP_001229956.1:n.-405G>T | |
| NM_001243028.2:c.-312G>T | NP_001229957.1:n.-312G>T | |
| NM_001626.5:c.-256G>T | NP_001617.1:n.-256G>T | |
| XM_011526620.1:c.-85+96G>T | XP_011524922.1:n.-85+96G>T |