Linked Data
dbSNP Id:
rs757438814
ExAC:
19:49379169 C / T
gnomAD v2:
19-49379169-C-T
gnomAD v4:
19-48875912-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48875912C>T , CM000681.2:g.48875912C>T | GRCh38 |
| NC_000019.9:g.49379169C>T , CM000681.1:g.49379169C>T | GRCh37 |
| NC_000019.8:g.54070981C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600406.2:c.*819C>T | ENSP00000469239.2:n.*819C>T | |
| ENST00000704026.1:c.1679C>T | ENSP00000515636.1:p.Thr560Ile | |
| ENST00000704027.1:c.2012C>T | ENSP00000515637.1:p.Thr671Ile | |
| ENST00000200453.6:c.1964C>T MANE Select | ENSP00000200453.4:p.Thr655Ile | |
| ENST00000200453.5:c.1964C>T | ENSP00000200453.4:p.Thr655Ile | |
| ENST00000600406.1:c.1595C>T | ||
| NM_014330.3:c.1964C>T | NP_055145.3:p.Thr655Ile | |
| NM_014330.5:c.1964C>T MANE Select | NP_055145.3:p.Thr655Ile |