Linked Data
dbSNP Id:
rs2145430791
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713303A>C , CM000681.2:g.6713303A>C | GRCh38 |
| NC_000019.9:g.6713314A>C , CM000681.1:g.6713314A>C | GRCh37 |
| NC_000019.8:g.6664314A>C | NCBI36 |
| NG_009557.1:g.12349T>G , LRG_27:g.12349T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.766T>G | ENSP00000512083.1:p.Ser256Ala | |
| ENST00000695654.1:c.13T>G | ENSP00000512085.1:p.Ser5Ala | |
| ENST00000695692.1:n.213T>G | ||
| ENST00000245907.11:c.889T>G MANE Select | ENSP00000245907.4:p.Ser297Ala | |
| ENST00000245907.10:c.889T>G | ENSP00000245907.4:p.Ser297Ala | |
| ENST00000594270.5:n.13T>G | ||
| ENST00000595577.1:n.393T>G | ||
| ENST00000597442.5:n.139T>G | ||
| NM_000064.3:c.889T>G | NP_000055.2:p.Ser297Ala | |
| NM_000064.4:c.889T>G MANE Select | NP_000055.2:p.Ser297Ala |