Linked Data
dbSNP Id:
rs755172388
ExAC:
2:73868121 G / GT
gnomAD v2:
2-73868121-G-GT
gnomAD v4:
2-73640994-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73640995dup , CM000664.2:g.73640995dup | GRCh38 |
| NC_000002.11:g.73868122dup , CM000664.1:g.73868122dup | GRCh37 |
| NC_000002.10:g.73721630dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.634dup MANE Select | ENSP00000272425.3:p.Thr212AsnfsTer12 | |
| ENST00000272425.3:c.634dup | ENSP00000272425.3:p.Thr212AsnfsTer12 | |
| NM_003960.3:c.634dup | NP_003951.3:p.Thr212AsnfsTer12 | |
| NM_003960.4:c.634dup MANE Select | NP_003951.3:p.Thr212AsnfsTer12 |