Linked Data
dbSNP Id:
rs1131123
ExAC:
6:31239378 T / G
gnomAD v2:
6-31239378-T-G
gnomAD v3:
6-31271601-T-G
gnomAD v4:
6-31271601-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271601T>G , CM000668.2:g.31271601T>G | GRCh38 |
| NC_000006.11:g.31239378T>G , CM000668.1:g.31239378T>G | GRCh37 |
| NC_000006.10:g.31347357T>G | NCBI36 |
| NG_029422.2:g.5531A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.341A>C MANE Select | ENSP00000365402.5:p.Asp114Ala | |
| ENST00000376228.9:c.341A>C | ENSP00000365402.5:p.Asp114Ala | |
| ENST00000376237.8:c.341A>C | ENSP00000365412.4:p.Asp114Ala | |
| ENST00000383329.7:c.341A>C | ENSP00000372819.3:p.Asp114Ala | |
| ENST00000415537.1:c.339A>C | ||
| ENST00000484378.1:n.360A>C | ||
| ENST00000487245.5:n.450A>C | ||
| ENST00000495835.1:n.530A>C | ||
| NM_002117.5:c.341A>C | NP_002108.4:p.Asp114Ala | |
| NM_002117.6:c.341A>C MANE Select | NP_002108.4:p.Asp114Ala |