Linked Data
dbSNP Id:
rs1761130636
gnomAD v3:
6-31269518-T-C
gnomAD v4:
6-31269518-T-C
MyVariant Identifiers:
chr6:g.31237295T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269518T>C , CM000668.2:g.31269518T>C | GRCh38 |
| NC_000006.11:g.31237295T>C , CM000668.1:g.31237295T>C | GRCh37 |
| NC_000006.10:g.31345274T>C | NCBI36 |
| NG_029422.2:g.7614A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1023A>G MANE Select | ENSP00000365402.5:p.Lys341= | |
| ENST00000376228.9:c.1023A>G | ENSP00000365402.5:p.Lys341= | |
| ENST00000376237.8:c.*610A>G | ENSP00000365412.4:n.*610A>G | |
| ENST00000383329.7:c.1041A>G | ENSP00000372819.3:p.Lys347= | |
| ENST00000466892.5:n.149A>G | ||
| ENST00000470363.5:n.781A>G | ||
| ENST00000487245.5:n.1382A>G | ||
| NM_002117.5:c.1023A>G | NP_002108.4:p.Lys341= | |
| NM_002117.6:c.1023A>G MANE Select | NP_002108.4:p.Lys341= |