Linked Data
dbSNP Id:
rs1050371
ExAC:
6:31239010 G / A
gnomAD v2:
6-31239010-G-A
gnomAD v3:
6-31271233-G-A
gnomAD v4:
6-31271233-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271233G>A , CM000668.2:g.31271233G>A | GRCh38 |
| NC_000006.11:g.31239010G>A , CM000668.1:g.31239010G>A | GRCh37 |
| NC_000006.10:g.31346989G>A | NCBI36 |
| NG_029422.2:g.5899C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.459C>T MANE Select | ENSP00000365402.5:p.Asp153= | |
| ENST00000376228.9:c.459C>T | ENSP00000365402.5:p.Asp153= | |
| ENST00000376237.8:c.*46C>T | ENSP00000365412.4:n.*46C>T | |
| ENST00000383329.7:c.459C>T | ENSP00000372819.3:p.Asp153= | |
| ENST00000415537.1:c.457C>T | ||
| ENST00000484378.1:n.728C>T | ||
| ENST00000487245.5:n.818C>T | ||
| ENST00000495835.1:n.648C>T | ||
| NM_002117.5:c.459C>T | NP_002108.4:p.Asp153= | |
| NM_002117.6:c.459C>T MANE Select | NP_002108.4:p.Asp153= |