Linked Data
dbSNP Id:
rs931380007
gnomAD v2:
5-127666317-T-C
gnomAD v3:
5-128330625-T-C
gnomAD v4:
5-128330625-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128330625T>C , CM000667.2:g.128330625T>C | GRCh38 |
| NC_000005.9:g.127666317T>C , CM000667.1:g.127666317T>C | GRCh37 |
| NC_000005.8:g.127694216T>C | NCBI36 |
| NG_008750.1:g.212419A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1077A>G | ||
| ENST00000703785.1:n.1158A>G | ||
| ENST00000262464.9:c.4293A>G MANE Select | ENSP00000262464.4:p.Ser1431= | |
| ENST00000262464.8:c.4293A>G | ENSP00000262464.4:p.Ser1431= | |
| ENST00000507835.5:c.843A>G | ENSP00000426839.1:p.Ser281= | |
| ENST00000508053.5:c.4293A>G | ENSP00000424571.1:p.Ser1431= | |
| ENST00000508989.5:c.4194A>G | ENSP00000425596.1:p.Ser1398= | |
| ENST00000619499.4:c.4290A>G | ENSP00000482132.1:p.Ser1430= | |
| NM_001999.3:c.4293A>G | NP_001990.2:p.Ser1431= | |
| XM_017009228.2:c.4140A>G | XP_016864717.1:p.Ser1380= | |
| NM_001999.4:c.4293A>G MANE Select | NP_001990.2:p.Ser1431= |