Linked Data
dbSNP Id:
rs1386449675
gnomAD v2:
6-1613141-A-T
gnomAD v3:
6-1612906-A-T
gnomAD v4:
6-1612906-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612906A>T , CM000668.2:g.1612906A>T | GRCh38 |
| NC_000006.11:g.1613141A>T , CM000668.1:g.1613141A>T | GRCh37 |
| NC_000006.10:g.1558140A>T | NCBI36 |
| NG_009368.1:g.7461A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*799A>T MANE Select | ENSP00000493906.1:n.*799A>T | |
| ENST00000380874.3:c.*799A>T | ENSP00000370256.2:n.*799A>T | |
| NM_001453.2:c.2461A>T | NP_001444.2:n.2461A>T | |
| NM_001453.3:c.*799A>T MANE Select | NP_001444.2:n.*799A>T |