Linked Data
dbSNP Id:
rs771659828
ExAC:
8:87751921 G / C
gnomAD v2:
8-87751921-G-C
gnomAD v3:
8-86739693-G-C
gnomAD v4:
8-86739693-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739693G>C , CM000670.2:g.86739693G>C | GRCh38 |
| NC_000008.10:g.87751921G>C , CM000670.1:g.87751921G>C | GRCh37 |
| NC_000008.9:g.87821037G>C | NCBI36 |
| NG_016980.1:g.8983C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.173C>G MANE Select | ENSP00000316605.5:p.Thr58Ser | |
| ENST00000681746.1:c.173C>G | ENSP00000505959.1:p.Thr58Ser | |
| ENST00000320005.5:c.173C>G | ENSP00000316605.5:p.Thr58Ser | |
| ENST00000519777.1:n.155C>G | ||
| NM_019098.4:c.173C>G | NP_061971.3:p.Thr58Ser | |
| NM_019098.5:c.173C>G MANE Select | NP_061971.3:p.Thr58Ser |