Linked Data
ClinVar Variation Id:
370444
ClinVar RCV Id:
RCV000412148
dbSNP Id:
rs1057516494
gnomAD v4:
8-99717186-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99717186C>A , CM000670.2:g.99717186C>A | GRCh38 |
| NC_000008.10:g.100729414C>A , CM000670.1:g.100729414C>A | GRCh37 |
| NC_000008.9:g.100798590C>A | NCBI36 |
| NG_007098.2:g.708921C>A , LRG_351:g.708921C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.6545C>A | ENSP00000507923.1:p.Ser2182Ter | |
| ENST00000682358.1:n.6615C>A | ||
| ENST00000683334.1:c.*2227C>A | ENSP00000507369.1:n.*2227C>A | |
| ENST00000357162.7:c.6470C>A MANE Select | ENSP00000349685.2:p.Ser2157Ter | |
| ENST00000358544.7:c.6545C>A MANE Plus Clinical | ENSP00000351346.2:p.Ser2182Ter | |
| ENST00000357162.6:c.6470C>A | ENSP00000349685.2:p.Ser2157Ter | |
| ENST00000358544.6:c.6545C>A | ENSP00000351346.2:p.Ser2182Ter | |
| NM_017890.4:c.6545C>A , LRG_351t1:c.6545C>A | NP_060360.3:p.Ser2182Ter | |
| NM_152564.4:c.6470C>A , LRG_351t2:c.6470C>A | NP_689777.3:p.Ser2157Ter | |
| XM_005250800.2:c.6545C>A | XP_005250857.1:p.Ser2182Ter | |
| XM_005250801.3:c.6545C>A | XP_005250858.1:p.Ser2182Ter | |
| XM_011516848.1:c.6542C>A | XP_011515150.1:p.Ser2181Ter | |
| XM_011516849.1:c.6467C>A | XP_011515151.1:p.Ser2156Ter | |
| XM_011516850.1:c.6167C>A | XP_011515152.1:p.Ser2056Ter | |
| XM_011516851.1:c.3431C>A | XP_011515153.1:p.Ser1144Ter | |
| XM_011516852.1:c.3431C>A | XP_011515154.1:p.Ser1144Ter | |
| XM_011516853.1:c.6545C>A | XP_011515155.1:p.Ser2182Ter | |
| XM_011516854.1:c.2324C>A | XP_011515156.1:p.Ser775Ter | |
| XM_005250800.3:c.6545C>A | XP_005250857.1:p.Ser2182Ter | |
| XM_005250801.5:c.6545C>A | XP_005250858.1:p.Ser2182Ter | |
| XM_011516848.2:c.6542C>A | XP_011515150.1:p.Ser2181Ter | |
| XM_011516849.2:c.6467C>A | XP_011515151.1:p.Ser2156Ter | |
| XM_011516850.2:c.6167C>A | XP_011515152.1:p.Ser2056Ter | |
| XM_011516851.2:c.3431C>A | XP_011515153.1:p.Ser1144Ter | |
| XM_011516852.2:c.3431C>A | XP_011515154.1:p.Ser1144Ter | |
| XM_011516853.2:c.6545C>A | XP_011515155.1:p.Ser2182Ter | |
| XM_011516854.2:c.2324C>A | XP_011515156.1:p.Ser775Ter | |
| XM_017013109.1:c.6350C>A | XP_016868598.1:p.Ser2117Ter | |
| XM_017013111.1:c.3431C>A | XP_016868600.1:p.Ser1144Ter | |
| XM_017013112.1:c.2102C>A | XP_016868601.1:p.Ser701Ter | |
| XM_024447074.1:c.5330C>A | XP_024302842.1:p.Ser1777Ter | |
| NM_017890.5:c.6545C>A MANE Plus Clinical | NP_060360.3:p.Ser2182Ter | |
| NM_152564.5:c.6470C>A MANE Select | NP_689777.3:p.Ser2157Ter |