Linked Data
dbSNP Id:
rs147157552
ExAC:
5:127863579 G / C
gnomAD v2:
5-127863579-G-C
gnomAD v3:
5-128527886-G-C
gnomAD v4:
5-128527886-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128527886G>C , CM000667.2:g.128527886G>C | GRCh38 |
| NC_000005.9:g.127863579G>C , CM000667.1:g.127863579G>C | GRCh37 |
| NC_000005.8:g.127891478G>C | NCBI36 |
| NG_008750.1:g.15157C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508053.6:c.518C>G | ENSP00000424571.2:p.Thr173Ser | |
| ENST00000703787.1:n.225C>G | ||
| ENST00000262464.9:c.518C>G MANE Select | ENSP00000262464.4:p.Thr173Ser | |
| ENST00000262464.8:c.518C>G | ENSP00000262464.4:p.Thr173Ser | |
| ENST00000502468.5:c.518C>G | ENSP00000424753.1:p.Thr173Ser | |
| ENST00000508053.5:c.518C>G | ENSP00000424571.1:p.Thr173Ser | |
| ENST00000508989.5:c.419C>G | ENSP00000425596.1:p.Thr140Ser | |
| ENST00000514742.1:n.1138C>G | ||
| ENST00000619499.4:c.518C>G | ENSP00000482132.1:p.Thr173Ser | |
| ENST00000620257.1:c.518C>G | ENSP00000479157.1:p.Thr173Ser | |
| NM_001999.3:c.518C>G | NP_001990.2:p.Thr173Ser | |
| XM_017009228.2:c.518C>G | XP_016864717.1:p.Thr173Ser | |
| NM_001999.4:c.518C>G MANE Select | NP_001990.2:p.Thr173Ser |