Linked Data
dbSNP Id:
rs760627621
ExAC:
6:31237794 C / G
gnomAD v2:
6-31237794-C-G
gnomAD v3:
6-31270017-C-G
gnomAD v4:
6-31270017-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270017C>G , CM000668.2:g.31270017C>G | GRCh38 |
| NC_000006.11:g.31237794C>G , CM000668.1:g.31237794C>G | GRCh37 |
| NC_000006.10:g.31345773C>G | NCBI36 |
| NG_029422.2:g.7115G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.964G>C MANE Select | ENSP00000365402.5:p.Ala322Pro | |
| ENST00000376228.9:c.964G>C | ENSP00000365402.5:p.Ala322Pro | |
| ENST00000376237.8:c.*551G>C | ENSP00000365412.4:n.*551G>C | |
| ENST00000383329.7:c.964G>C | ENSP00000372819.3:p.Ala322Pro | |
| ENST00000470363.5:n.282G>C | ||
| ENST00000487245.5:n.1323G>C | ||
| NM_002117.5:c.964G>C | NP_002108.4:p.Ala322Pro | |
| NM_002117.6:c.964G>C MANE Select | NP_002108.4:p.Ala322Pro |