Linked Data
dbSNP Id:
rs1399777134
gnomAD v2:
19-41524184-CT-C
gnomAD v3:
19-41018279-CT-C
gnomAD v4:
19-41018279-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41018281del , CM000681.2:g.41018281del | GRCh38 |
| NC_000019.9:g.41524186del , CM000681.1:g.41524186del | GRCh37 |
| NC_000019.8:g.46216026del | NCBI36 |
| NG_007929.1:g.31983del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.*1454del MANE Select | ENSP00000324648.2:n.*1454del | |
| ENST00000324071.8:c.*1454del | ENSP00000324648.2:n.*1454del | |
| NM_000767.4:c.*1454del | NP_000758.1:n.*1454del | |
| XM_011526548.1:c.*1454del | XP_011524850.1:n.*1454del | |
| XM_011526549.1:c.*1454del | XP_011524851.1:n.*1454del | |
| XM_011526550.1:c.*1454del | XP_011524852.1:n.*1454del | |
| NM_000767.5:c.*1454del MANE Select | NP_000758.1:n.*1454del |