Linked Data
dbSNP Id:
rs753553717
ExAC:
2:176983701 A / G
gnomAD v2:
2-176983701-A-G
gnomAD v4:
2-176118973-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176118973A>G , CM000664.2:g.176118973A>G | GRCh38 |
| NC_000002.11:g.176983701A>G , CM000664.1:g.176983701A>G | GRCh37 |
| NC_000002.10:g.176691947A>G | NCBI36 |
| NG_008133.2:g.12210A>G , LRG_246:g.12210A>G | |
| NG_009225.1:g.1289A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.765A>G MANE Select | ENSP00000249501.4:p.Thr255= | |
| ENST00000249501.4:c.765A>G | ENSP00000249501.4:p.Thr255= | |
| ENST00000490088.2:n.589A>G | ||
| ENST00000549469.1:n.636A>G | ||
| NM_002148.3:c.765A>G , LRG_246t1:c.765A>G | NP_002139.2:p.Thr255= | |
| NM_002148.4:c.765A>G MANE Select | NP_002139.2:p.Thr255= |