Linked Data
dbSNP Id:
rs1048977347
gnomAD v2:
6-31236753-G-A
gnomAD v3:
6-31268976-G-A
gnomAD v4:
6-31268976-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268976G>A , CM000668.2:g.31268976G>A | GRCh38 |
| NC_000006.11:g.31236753G>A , CM000668.1:g.31236753G>A | GRCh37 |
| NC_000006.10:g.31344732G>A | NCBI36 |
| NG_029422.2:g.8156C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.*193C>T MANE Select | ENSP00000365402.5:n.*193C>T | |
| ENST00000376228.9:c.*193C>T | ENSP00000365402.5:n.*193C>T | |
| ENST00000376237.8:c.*881C>T | ENSP00000365412.4:n.*881C>T | |
| ENST00000383329.7:c.*193C>T | ENSP00000372819.3:n.*193C>T | |
| ENST00000466892.5:n.527C>T | ||
| ENST00000470363.5:n.1052C>T | ||
| ENST00000487245.5:n.1653C>T | ||
| NM_002117.5:c.*193C>T | NP_002108.4:n.*193C>T | |
| NM_002117.6:c.*193C>T MANE Select | NP_002108.4:n.*193C>T |