Linked Data
dbSNP Id:
rs773560839
ExAC:
2:86257419 G / A
gnomAD v2:
2-86257419-G-A
gnomAD v4:
2-86030296-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86030296G>A , CM000664.2:g.86030296G>A | GRCh38 |
| NC_000002.11:g.86257419G>A , CM000664.1:g.86257419G>A | GRCh37 |
| NC_000002.10:g.86110930G>A | NCBI36 |
| NG_050742.2:g.80860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.4679C>T MANE Select | ENSP00000263857.6:p.Thr1560Ile | |
| ENST00000263857.10:c.4679C>T | ENSP00000263857.6:p.Thr1560Ile | |
| ENST00000409681.1:c.4496C>T | ENSP00000386300.1:p.Thr1499Ile | |
| NM_015425.3:c.4679C>T | NP_056240.2:p.Thr1560Ile | |
| XM_006711983.2:c.4355C>T | XP_006712046.1:p.Thr1452Ile | |
| NM_015425.5:c.4679C>T | NP_056240.2:p.Thr1560Ile | |
| NM_015425.6:c.4679C>T MANE Select | NP_056240.2:p.Thr1560Ile |