Linked Data
dbSNP Id:
rs1165832542
gnomAD v2:
19-2274952-AG-A
gnomAD v3:
19-2274953-AG-A
gnomAD v4:
19-2274953-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274954del , CM000681.2:g.2274954del | GRCh38 |
| NC_000019.9:g.2274953del , CM000681.1:g.2274953del | GRCh37 |
| NC_000019.8:g.2225953del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*726del MANE Select | ENSP00000345102.3:n.*726del | |
| ENST00000342063.4:c.*726del | ENSP00000345102.3:n.*726del | |
| ENST00000621615.1:c.146+5210del | ENSP00000481965.1:n.146+5210del | |
| NM_198532.2:c.*726del | NP_940934.1:n.*726del | |
| NM_198532.3:c.*726del MANE Select | NP_940934.1:n.*726del |