Linked Data
dbSNP Id:
rs1157876765
gnomAD v2:
6-31237278-T-G
gnomAD v3:
6-31269501-T-G
gnomAD v4:
6-31269501-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269501T>G , CM000668.2:g.31269501T>G | GRCh38 |
| NC_000006.11:g.31237278T>G , CM000668.1:g.31237278T>G | GRCh37 |
| NC_000006.10:g.31345257T>G | NCBI36 |
| NG_029422.2:g.7631A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1040A>C MANE Select | ENSP00000365402.5:p.Gln347Pro | |
| ENST00000376228.9:c.1040A>C | ENSP00000365402.5:p.Gln347Pro | |
| ENST00000376237.8:c.*627A>C | ENSP00000365412.4:n.*627A>C | |
| ENST00000383329.7:c.1058A>C | ENSP00000372819.3:p.Gln353Pro | |
| ENST00000466892.5:n.166A>C | ||
| ENST00000470363.5:n.798A>C | ||
| ENST00000487245.5:n.1399A>C | ||
| NM_002117.5:c.1040A>C | NP_002108.4:p.Gln347Pro | |
| NM_002117.6:c.1040A>C MANE Select | NP_002108.4:p.Gln347Pro |