Linked Data
gnomAD v3:
6-31271086-C-A
gnomAD v4:
6-31271086-C-A
MyVariant Identifiers:
chr6:g.31238863C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271086C>A , CM000668.2:g.31271086C>A | GRCh38 |
| NC_000006.11:g.31238863C>A , CM000668.1:g.31238863C>A | GRCh37 |
| NC_000006.10:g.31346842C>A | NCBI36 |
| NG_029422.2:g.6046G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.606G>T MANE Select | ENSP00000365402.5:p.Thr202= | |
| ENST00000376228.9:c.606G>T | ENSP00000365402.5:p.Thr202= | |
| ENST00000376237.8:c.*193G>T | ENSP00000365412.4:n.*193G>T | |
| ENST00000383329.7:c.606G>T | ENSP00000372819.3:p.Thr202= | |
| ENST00000415537.1:c.604G>T | ||
| ENST00000487245.5:n.965G>T | ||
| ENST00000495835.1:n.795G>T | ||
| NM_002117.5:c.606G>T | NP_002108.4:p.Thr202= | |
| NM_002117.6:c.606G>T MANE Select | NP_002108.4:p.Thr202= |