Linked Data
dbSNP Id:
rs140245260
ExAC:
21:45876827 C / T
gnomAD v2:
21-45876827-C-T
gnomAD v3:
21-44456944-C-T
gnomAD v4:
21-44456944-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456944C>T , CM000683.2:g.44456944C>T | GRCh38 |
| NC_000021.8:g.45876827C>T , CM000683.1:g.45876827C>T | GRCh37 |
| NC_000021.7:g.44701255C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.300C>T MANE Select | ENSP00000291592.4:p.Ile100= | |
| ENST00000291592.5:c.300C>T | ENSP00000291592.4:p.Ile100= | |
| NM_030891.4:c.300C>T | NP_112153.1:p.Ile100= | |
| NM_030891.5:c.300C>T | NP_112153.1:p.Ile100= | |
| NM_030891.6:c.300C>T MANE Select | NP_112153.1:p.Ile100= |