Linked Data
dbSNP Id:
rs1554181495
ExAC:
6:31239100 A / G
gnomAD v2:
6-31239100-A-G
gnomAD v3:
6-31271323-A-G
gnomAD v4:
6-31271323-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271323A>G , CM000668.2:g.31271323A>G | GRCh38 |
| NC_000006.11:g.31239100A>G , CM000668.1:g.31239100A>G | GRCh37 |
| NC_000006.10:g.31347079A>G | NCBI36 |
| NG_029422.2:g.5809T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.369T>C MANE Select | ENSP00000365402.5:p.Ser123= | |
| ENST00000376228.9:c.369T>C | ENSP00000365402.5:p.Ser123= | |
| ENST00000376237.8:c.352T>C | ENSP00000365412.4:p.Trp118Arg | |
| ENST00000383329.7:c.369T>C | ENSP00000372819.3:p.Ser123= | |
| ENST00000415537.1:c.367T>C | ||
| ENST00000484378.1:n.638T>C | ||
| ENST00000487245.5:n.728T>C | ||
| ENST00000495835.1:n.558T>C | ||
| NM_002117.5:c.369T>C | NP_002108.4:p.Ser123= | |
| NM_002117.6:c.369T>C MANE Select | NP_002108.4:p.Ser123= |