Linked Data
gnomAD v3:
6-31270451-G-A
gnomAD v4:
6-31270451-G-A
MyVariant Identifiers:
chr6:g.31238228G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270451G>A , CM000668.2:g.31270451G>A | GRCh38 |
| NC_000006.11:g.31238228G>A , CM000668.1:g.31238228G>A | GRCh37 |
| NC_000006.10:g.31346207G>A | NCBI36 |
| NG_029422.2:g.6681C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.654C>T MANE Select | ENSP00000365402.5:p.Leu218= | |
| ENST00000376228.9:c.654C>T | ENSP00000365402.5:p.Leu218= | |
| ENST00000376237.8:c.*241C>T | ENSP00000365412.4:n.*241C>T | |
| ENST00000383329.7:c.654C>T | ENSP00000372819.3:p.Leu218= | |
| ENST00000415537.1:c.652C>T | ||
| ENST00000487245.5:n.1013C>T | ||
| ENST00000495835.1:n.843C>T | ||
| NM_002117.5:c.654C>T | NP_002108.4:p.Leu218= | |
| NM_002117.6:c.654C>T MANE Select | NP_002108.4:p.Leu218= |