Linked Data
dbSNP Id:
rs773039546
ExAC:
19:15651545 TG / T
gnomAD v2:
19-15651545-TG-T
gnomAD v3:
19-15540734-TG-T
gnomAD v4:
19-15540734-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15540736del , CM000681.2:g.15540736del | GRCh38 |
| NC_000019.9:g.15651547del , CM000681.1:g.15651547del | GRCh37 |
| NC_000019.8:g.15512547del | NCBI36 |
| NG_007987.1:g.37212del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269703.8:c.939+19del MANE Select | ENSP00000269703.1:n.939+19del | |
| ENST00000269703.7:c.939+19del | ENSP00000269703.1:n.939+19del | |
| ENST00000601005.2:c.939+19del | ENSP00000469866.1:n.939+19del | |
| NM_173483.3:c.939+19del | NP_775754.2:n.939+19del | |
| XM_011527692.1:c.939+19del | XP_011525994.1:n.939+19del | |
| XM_011527693.1:c.939+19del | XP_011525995.1:n.939+19del | |
| XM_011527692.2:c.939+19del | XP_011525994.1:n.939+19del | |
| XM_011527693.2:c.939+19del | XP_011525995.1:n.939+19del | |
| NM_173483.4:c.939+19del MANE Select | NP_775754.2:n.939+19del |