Linked Data
dbSNP Id:
rs756325200
ExAC:
12:91449772 TG / T
gnomAD v2:
12-91449772-TG-T
gnomAD v4:
12-91055995-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055998del , CM000674.2:g.91055998del | GRCh38 |
| NC_000012.11:g.91449775del , CM000674.1:g.91449775del | GRCh37 |
| NC_000012.10:g.89973906del | NCBI36 |
| NG_021223.1:g.7359del , LRG_538:g.7359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.286del MANE Select | ENSP00000266719.3:p.Gln96SerfsTer2 | |
| ENST00000266719.3:c.286del | ENSP00000266719.3:p.Gln96SerfsTer2 | |
| NM_007035.3:c.286del , LRG_538t1:c.286del | NP_008966.1:p.Gln96SerfsTer2 | |
| XM_011537781.1:c.286del | XP_011536083.1:p.Gln96SerfsTer2 | |
| NM_007035.4:c.286del MANE Select | NP_008966.1:p.Gln96SerfsTer2 |