Linked Data
dbSNP Id:
rs28626310
ExAC:
6:31239449 C / G
gnomAD v2:
6-31239449-C-G
gnomAD v3:
6-31271672-C-G
gnomAD v4:
6-31271672-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271672C>G , CM000668.2:g.31271672C>G | GRCh38 |
| NC_000006.11:g.31239449C>G , CM000668.1:g.31239449C>G | GRCh37 |
| NC_000006.10:g.31347428C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.270G>C MANE Select | ENSP00000365402.5:p.Lys90Asn | |
| ENST00000376228.9:c.270G>C | ENSP00000365402.5:p.Lys90Asn | |
| ENST00000376237.8:c.270G>C | ENSP00000365412.4:p.Lys90Asn | |
| ENST00000383329.7:c.270G>C | ENSP00000372819.3:p.Lys90Asn | |
| ENST00000415537.1:c.268G>C | ||
| ENST00000484378.1:n.289G>C | ||
| ENST00000487245.5:n.379G>C | ||
| ENST00000495835.1:n.459G>C | ||
| NM_002117.5:c.270G>C | NP_002108.4:p.Lys90Asn | |
| NM_002117.6:c.270G>C MANE Select | NP_002108.4:p.Lys90Asn |