Linked Data
dbSNP Id:
rs1260630075
gnomAD v2:
5-127863600-C-G
gnomAD v3:
5-128527907-C-G
gnomAD v4:
5-128527907-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128527907C>G , CM000667.2:g.128527907C>G | GRCh38 |
| NC_000005.9:g.127863600C>G , CM000667.1:g.127863600C>G | GRCh37 |
| NC_000005.8:g.127891499C>G | NCBI36 |
| NG_008750.1:g.15136G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508053.6:c.497G>C | ENSP00000424571.2:p.Cys166Ser | |
| ENST00000703787.1:n.204G>C | ||
| ENST00000262464.9:c.497G>C MANE Select | ENSP00000262464.4:p.Cys166Ser | |
| ENST00000262464.8:c.497G>C | ENSP00000262464.4:p.Cys166Ser | |
| ENST00000502468.5:c.497G>C | ENSP00000424753.1:p.Cys166Ser | |
| ENST00000508053.5:c.497G>C | ENSP00000424571.1:p.Cys166Ser | |
| ENST00000508989.5:c.398G>C | ENSP00000425596.1:p.Cys133Ser | |
| ENST00000514742.1:n.1117G>C | ||
| ENST00000619499.4:c.497G>C | ENSP00000482132.1:p.Cys166Ser | |
| ENST00000620257.1:c.497G>C | ENSP00000479157.1:p.Cys166Ser | |
| NM_001999.3:c.497G>C | NP_001990.2:p.Cys166Ser | |
| XM_017009228.2:c.497G>C | XP_016864717.1:p.Cys166Ser | |
| NM_001999.4:c.497G>C MANE Select | NP_001990.2:p.Cys166Ser |