Linked Data
dbSNP Id:
rs774085113
ExAC:
6:31236851 A / G
gnomAD v2:
6-31236851-A-G
gnomAD v4:
6-31269074-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269074A>G , CM000668.2:g.31269074A>G | GRCh38 |
| NC_000006.11:g.31236851A>G , CM000668.1:g.31236851A>G | GRCh37 |
| NC_000006.10:g.31344830A>G | NCBI36 |
| NG_029422.2:g.8058T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.*95T>C MANE Select | ENSP00000365402.5:n.*95T>C | |
| ENST00000376228.9:c.*95T>C | ENSP00000365402.5:n.*95T>C | |
| ENST00000376237.8:c.*783T>C | ENSP00000365412.4:n.*783T>C | |
| ENST00000383329.7:c.*95T>C | ENSP00000372819.3:n.*95T>C | |
| ENST00000466892.5:n.429T>C | ||
| ENST00000470363.5:n.954T>C | ||
| ENST00000487245.5:n.1555T>C | ||
| NM_002117.5:c.*95T>C | NP_002108.4:n.*95T>C | |
| NM_002117.6:c.*95T>C MANE Select | NP_002108.4:n.*95T>C |