Linked Data
dbSNP Id:
rs139702282
ExAC:
6:31237272 G / C
gnomAD v2:
6-31237272-G-C
gnomAD v3:
6-31269495-G-C
gnomAD v4:
6-31269495-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269495G>C , CM000668.2:g.31269495G>C | GRCh38 |
| NC_000006.11:g.31237272G>C , CM000668.1:g.31237272G>C | GRCh37 |
| NC_000006.10:g.31345251G>C | NCBI36 |
| NG_029422.2:g.7637C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1046C>G MANE Select | ENSP00000365402.5:p.Ala349Gly | |
| ENST00000376228.9:c.1046C>G | ENSP00000365402.5:p.Ala349Gly | |
| ENST00000376237.8:c.*633C>G | ENSP00000365412.4:n.*633C>G | |
| ENST00000383329.7:c.1064C>G | ENSP00000372819.3:p.Ala355Gly | |
| ENST00000466892.5:n.172C>G | ||
| ENST00000470363.5:n.804C>G | ||
| ENST00000487245.5:n.1405C>G | ||
| NM_002117.5:c.1046C>G | NP_002108.4:p.Ala349Gly | |
| NM_002117.6:c.1046C>G MANE Select | NP_002108.4:p.Ala349Gly |