Linked Data
dbSNP Id:
rs41563421
ExAC:
6:31239073 G / T
gnomAD v2:
6-31239073-G-T
gnomAD v3:
6-31271296-G-T
gnomAD v4:
6-31271296-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271296G>T , CM000668.2:g.31271296G>T | GRCh38 |
| NC_000006.11:g.31239073G>T , CM000668.1:g.31239073G>T | GRCh37 |
| NC_000006.10:g.31347052G>T | NCBI36 |
| NG_029422.2:g.5836C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.396C>A MANE Select | ENSP00000365402.5:p.Arg132= | |
| ENST00000376228.9:c.396C>A | ENSP00000365402.5:p.Arg132= | |
| ENST00000376237.8:c.379C>A | ENSP00000365412.4:p.Pro127Thr | |
| ENST00000383329.7:c.396C>A | ENSP00000372819.3:p.Arg132= | |
| ENST00000415537.1:c.394C>A | ||
| ENST00000484378.1:n.665C>A | ||
| ENST00000487245.5:n.755C>A | ||
| ENST00000495835.1:n.585C>A | ||
| NM_002117.5:c.396C>A | NP_002108.4:p.Arg132= | |
| NM_002117.6:c.396C>A MANE Select | NP_002108.4:p.Arg132= |