Linked Data
dbSNP Id:
rs750374167
ExAC:
9:95481122 GT / G
gnomAD v2:
9-95481122-GT-G
gnomAD v4:
9-92718840-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92718841del , CM000671.2:g.92718841del | GRCh38 |
| NC_000009.11:g.95481123del , CM000671.1:g.95481123del | GRCh37 |
| NC_000009.10:g.94520944del | NCBI36 |
| NG_033908.1:g.50961del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1804del MANE Select | ENSP00000349351.6:p.Thr602ArgfsTer16 | |
| ENST00000356884.10:c.1804del | ENSP00000349351.6:p.Thr602ArgfsTer16 | |
| ENST00000375512.3:c.1804del | ENSP00000364662.3:p.Thr602ArgfsTer16 | |
| NM_001003800.1:c.1804del | NP_001003800.1:p.Thr602ArgfsTer16 | |
| NM_015250.3:c.1804del | NP_056065.1:p.Thr602ArgfsTer16 | |
| XM_017014551.1:c.1885del | XP_016870040.1:p.Thr629ArgfsTer16 | |
| NM_001003800.2:c.1804del MANE Select | NP_001003800.1:p.Thr602ArgfsTer16 | |
| NM_015250.4:c.1804del | NP_056065.1:p.Thr602ArgfsTer16 |