Linked Data
dbSNP Id:
rs755242294
ExAC:
19:39735154 GT / G
gnomAD v2:
19-39735154-GT-G
gnomAD v4:
19-39244514-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39244516del , CM000681.2:g.39244516del | GRCh38 |
| NC_000019.9:g.39735156del , CM000681.1:g.39735156del | GRCh37 |
| NC_000019.8:g.44426996del | NCBI36 |
| NG_042193.1:g.5457del | |
| NG_055295.1:g.9342del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613087.5:c.193-21del | ENSP00000481633.1:n.193-21del | |
| ENST00000413851.3:c.181-21del MANE Select | ENSP00000409000.2:n.181-21del | |
| ENST00000413851.2:c.181-21del | ENSP00000409000.2:n.181-21del | |
| ENST00000613087.4:c.193-21del | ENSP00000481633.1:n.193-21del | |
| NM_172139.2:c.181-21del | NP_742151.2:n.181-21del | |
| XM_005258765.3:c.193-21del | XP_005258822.1:n.193-21del | |
| XM_011526757.1:c.193-21del | XP_011525059.1:n.193-21del | |
| NM_001346937.1:c.193-21del | NP_001333866.1:n.193-21del | |
| NM_172139.3:c.181-21del | NP_742151.2:n.181-21del | |
| NM_172139.4:c.181-21del MANE Select | NP_742151.2:n.181-21del | |
| NM_001346937.2:c.193-21del | NP_001333866.1:n.193-21del |