Linked Data
dbSNP Id:
rs745707117
ExAC:
6:31239165 C / A
gnomAD v2:
6-31239165-C-A
gnomAD v3:
6-31271388-C-A
gnomAD v4:
6-31271388-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271388C>A , CM000668.2:g.31271388C>A | GRCh38 |
| NC_000006.11:g.31239165C>A , CM000668.1:g.31239165C>A | GRCh37 |
| NC_000006.10:g.31347144C>A | NCBI36 |
| NG_029422.2:g.5744G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.344-40G>T MANE Select | ENSP00000365402.5:n.344-40G>T | |
| ENST00000376228.9:c.344-40G>T | ENSP00000365402.5:n.344-40G>T | |
| ENST00000376237.8:c.344-57G>T | ENSP00000365412.4:n.344-57G>T | |
| ENST00000383329.7:c.344-40G>T | ENSP00000372819.3:n.344-40G>T | |
| ENST00000415537.1:c.342-40G>T | ||
| ENST00000484378.1:n.573G>T | ||
| ENST00000487245.5:n.663G>T | ||
| ENST00000495835.1:n.533-40G>T | ||
| NM_002117.5:c.344-40G>T | NP_002108.4:n.344-40G>T | |
| NM_002117.6:c.344-40G>T MANE Select | NP_002108.4:n.344-40G>T |