Linked Data
dbSNP Id:
rs2918307
gnomAD v2:
19-8789722-A-T
gnomAD v3:
19-8679458-A-T
gnomAD v4:
19-8679458-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8679458A>T , CM000681.2:g.8679458A>T | GRCh38 |
| NC_000019.9:g.8789722A>T , CM000681.1:g.8789722A>T | GRCh37 |
| NC_000019.8:g.8650722A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570582.4:c.*1823A>T | ENSP00000500121.1:n.*1823A>T | |
| ENST00000671902.2:c.*1823A>T | ENSP00000500604.1:n.*1823A>T | |
| ENST00000673603.2:c.*1823A>T | ENSP00000499970.1:n.*1823A>T | |
| ENST00000691075.1:c.*1823A>T MANE Select | ENSP00000509575.1:n.*1823A>T | |
| NM_001378599.1:c.*1823A>T | NP_001365528.1:n.*1823A>T | |
| NM_001378600.1:c.*1823A>T MANE Select | NP_001365529.1:n.*1823A>T | |
| NM_001378601.1:c.*1823A>T | NP_001365530.1:n.*1823A>T |