gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55058538C>A , CM000663.2:g.55058538C>A | GRCh38 |
| NC_000001.10:g.55524211C>A , CM000663.1:g.55524211C>A | GRCh37 |
| NC_000001.9:g.55296799C>A | NCBI36 |
| NG_009061.1:g.23992C>A , LRG_275:g.23992C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1394C>A | ENSP00000501161.2:p.Ser465Ter | |
| ENST00000710286.1:c.1751C>A | ENSP00000518176.1:p.Ser584Ter | |
| ENST00000673903.1:c.1019C>A | ENSP00000501257.1:p.Ser340Ter | |
| ENST00000673913.1:c.134C>A | ENSP00000501161.1:p.Ser45Ter | |
| ENST00000302118.5:c.1394C>A MANE Select | ENSP00000303208.5:p.Ser465Ter | |
| ENST00000490692.1:n.2118C>A | ||
| NM_174936.3:c.1394C>A , LRG_275t1:c.1394C>A | NP_777596.2:p.Ser465Ter | |
| NR_110451.1:n.1001C>A | ||
| XM_011541193.1:c.515C>A | XP_011539495.1:p.Ser172Ter | |
| NM_174936.4:c.1394C>A MANE Select | NP_777596.2:p.Ser465Ter | |
| NR_110451.2:n.1001C>A |