Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063548C>T , CM000663.2:g.55063548C>T | GRCh38 |
| NC_000001.10:g.55529221C>T , CM000663.1:g.55529221C>T | GRCh37 |
| NC_000001.9:g.55301809C>T | NCBI36 |
| NG_009061.1:g.29002C>T , LRG_275:g.29002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*383C>T | ENSP00000501161.2:n.*383C>T | |
| ENST00000710286.1:c.2400C>T | ENSP00000518176.1:p.Ser800= | |
| ENST00000673903.1:c.1668C>T | ENSP00000501257.1:p.Ser556= | |
| ENST00000302118.5:c.2043C>T MANE Select | ENSP00000303208.5:p.Ser681= | |
| ENST00000490692.1:n.2589C>T | ||
| NM_174936.3:c.2043C>T , LRG_275t1:c.2043C>T | NP_777596.2:p.Ser681= | |
| NR_110451.1:n.1650C>T | ||
| XM_011541193.1:c.1164C>T | XP_011539495.1:p.Ser388= | |
| NM_174936.4:c.2043C>T MANE Select | NP_777596.2:p.Ser681= | |
| NR_110451.2:n.1650C>T |