Linked Data
dbSNP Id:
rs1051302600
gnomAD v2:
2-44114523-G-A
gnomAD v3:
2-43887384-G-A
gnomAD v4:
2-43887384-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887384G>A , CM000664.2:g.43887384G>A | GRCh38 |
| NC_000002.11:g.44114523G>A , CM000664.1:g.44114523G>A | GRCh37 |
| NC_000002.10:g.43968027G>A | NCBI36 |
| NG_008247.1:g.113622C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2168C>T | ||
| ENST00000684454.1:n.9265C>T | ||
| ENST00000260665.12:c.*1216C>T MANE Select | ENSP00000260665.7:n.*1216C>T | |
| ENST00000260665.11:c.*1216C>T | ENSP00000260665.7:n.*1216C>T | |
| NM_133259.3:c.*1216C>T | NP_573566.2:n.*1216C>T | |
| XR_002958896.1:n.5583C>T | ||
| NM_133259.4:c.*1216C>T MANE Select | NP_573566.2:n.*1216C>T |