Linked Data
dbSNP Id:
rs1207025704
gnomAD v2:
17-16852128-A-C
gnomAD v3:
17-16948814-A-C
gnomAD v4:
17-16948814-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948814A>C , CM000679.2:g.16948814A>C | GRCh38 |
| NC_000017.10:g.16852128A>C , CM000679.1:g.16852128A>C | GRCh37 |
| NC_000017.9:g.16792853A>C | NCBI36 |
| NG_007281.1:g.28275T>G , LRG_120:g.28275T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.369T>G MANE Select | ENSP00000261652.2:p.Ser123Arg | |
| ENST00000261652.6:c.369T>G | ENSP00000261652.2:p.Ser123Arg | |
| ENST00000579315.5:c.369T>G | ENSP00000464069.1:p.Ser123Arg | |
| ENST00000581616.2:n.372T>G | ||
| ENST00000582931.5:n.273T>G | ||
| ENST00000583789.1:c.231T>G | ENSP00000462952.1:p.Ser77Arg | |
| ENST00000584950.5:c.231T>G | ENSP00000463582.1:p.Ser77Arg | |
| NM_012452.2:c.369T>G , LRG_120t1:c.369T>G | NP_036584.1:p.Ser123Arg | |
| NM_012452.3:c.369T>G MANE Select | NP_036584.1:p.Ser123Arg |