Linked Data
dbSNP Id:
rs1343198366
gnomAD v2:
6-31236828-C-T
gnomAD v3:
6-31269051-C-T
gnomAD v4:
6-31269051-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269051C>T , CM000668.2:g.31269051C>T | GRCh38 |
| NC_000006.11:g.31236828C>T , CM000668.1:g.31236828C>T | GRCh37 |
| NC_000006.10:g.31344807C>T | NCBI36 |
| NG_029422.2:g.8081G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.*118G>A MANE Select | ENSP00000365402.5:n.*118G>A | |
| ENST00000376228.9:c.*118G>A | ENSP00000365402.5:n.*118G>A | |
| ENST00000376237.8:c.*806G>A | ENSP00000365412.4:n.*806G>A | |
| ENST00000383329.7:c.*118G>A | ENSP00000372819.3:n.*118G>A | |
| ENST00000466892.5:n.452G>A | ||
| ENST00000470363.5:n.977G>A | ||
| ENST00000487245.5:n.1578G>A | ||
| NM_002117.5:c.*118G>A | NP_002108.4:n.*118G>A | |
| NM_002117.6:c.*118G>A MANE Select | NP_002108.4:n.*118G>A |