MyVariant.info:
GRCh38
chr21:g.14144655A>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.14144655A>C , CM000683.2:g.14144655A>C | GRCh38 |
| NG_021434.2:g.67279T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400211.3:c.1006+18764T>G | ENSP00000383072.3:n.1006+18764T>G | |
| ENST00000536861.6:c.1245T>G | ENSP00000440381.3:p.Ser415Arg | |
| ENST00000614229.5:c.1173T>G | ENSP00000482652.2:p.Ser391Arg | |
| ENST00000679868.1:c.768T>G | ENSP00000506458.1:p.Ser256Arg | |
| ENST00000680487.1:c.*267T>G | ENSP00000506194.1:n.*267T>G | |
| ENST00000680801.1:c.1158T>G | ENSP00000505904.1:p.Ser386Arg | |
| ENST00000681601.1:c.1263T>G MANE Select | ENSP00000505323.1:p.Ser421Arg | |
| ENST00000344577.6:c.1326T>G | ENSP00000343331.2:p.Ser442Arg | |
| ENST00000536861.5:c.1236T>G | ENSP00000440381.2:p.Ser412Arg | |
| ENST00000614229.4:c.1146T>G | ENSP00000482652.1:p.Ser382Arg | |
| NM_001302998.1:c.1263T>G | NP_001289927.1:p.Ser421Arg | |
| NM_001302999.1:c.1173T>G | NP_001289928.1:p.Ser391Arg | |
| NM_001303000.1:c.1245T>G | NP_001289929.1:p.Ser415Arg | |
| NM_001303001.1:c.1006+18764T>G | NP_001289930.1:n.1006+18764T>G | |
| NM_198996.3:c.1326T>G | NP_945347.2:p.Ser442Arg | |
| XM_006723966.1:c.1075+18782T>G | XP_006724029.1:n.1075+18782T>G | |
| NM_001302998.2:c.1263T>G MANE Select | NP_001289927.1:p.Ser421Arg | |
| NM_001302999.2:c.1173T>G | NP_001289928.1:p.Ser391Arg | |
| NM_001303000.2:c.1245T>G | NP_001289929.1:p.Ser415Arg | |
| NM_001303001.2:c.1006+18764T>G | NP_001289930.1:n.1006+18764T>G | |
| NM_001379565.1:c.1158T>G | NP_001366494.1:p.Ser386Arg | |
| NM_001379566.1:c.768T>G | NP_001366495.1:p.Ser256Arg | |
| NM_198996.4:c.1128T>G | NP_945347.3:p.Ser376Arg |