Linked Data
ClinVar Variation Id:
35493
dbSNP Id:
rs145191476
ExAC:
1:109466682 C / A
gnomAD v2:
1-109466682-C-A
gnomAD v3:
1-108924060-C-A
gnomAD v4:
1-108924060-C-A
PubMed:
PMID:22578326
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108924060C>A , CM000663.2:g.108924060C>A | GRCh38 |
| NC_000001.10:g.109466682C>A , CM000663.1:g.109466682C>A | GRCh37 |
| NC_000001.9:g.109268205C>A | NCBI36 |
| NG_028108.1:g.52080C>A | |
| NG_028108.2:g.53711C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000690509.1:c.*45+10565G>T (CLCC1) | ENSP00000510142.1:n.*45+10565G>T | |
| ENST00000264126.9:c.1661C>A (GPSM2) MANE Select | ENSP00000264126.3:p.Ser554Ter | |
| ENST00000357393.6:c.-1+39301G>T (AKNAD1) | ENSP00000349968.6:n.-1+39301G>T | |
| ENST00000441735.2:c.1661C>A (GPSM2) | ENSP00000390629.2:p.Ser554Ter | |
| ENST00000446797.2:c.1661C>A (GPSM2) | ENSP00000392138.2:p.Ser554Ter | |
| ENST00000642355.1:c.1661C>A (GPSM2) | ENSP00000496104.1:p.Ser554Ter | |
| ENST00000643643.1:c.750C>A (GPSM2) | ||
| ENST00000645164.2:c.1661C>A (GPSM2) | ENSP00000496756.2:p.Ser554Ter | |
| ENST00000674700.1:c.1543+1484C>A (GPSM2) | ENSP00000501743.1:n.1543+1484C>A | |
| ENST00000674731.1:c.*378C>A (GPSM2) | ENSP00000502401.1:n.*378C>A | |
| ENST00000674914.1:c.1712C>A (GPSM2) | ENSP00000501579.1:p.Ser571Ter | |
| ENST00000675086.1:c.1484C>A (GPSM2) | ENSP00000502476.1:p.Ser495Ter | |
| ENST00000675087.1:c.1712C>A (GPSM2) | ENSP00000502020.1:p.Ser571Ter | |
| ENST00000675740.1:n.1276C>A (GPSM2) | ||
| ENST00000676184.1:c.1661C>A (GPSM2) | ENSP00000502178.1:p.Ser554Ter | |
| ENST00000676404.1:c.*567C>A (GPSM2) | ENSP00000502346.1:n.*567C>A | |
| ENST00000264126.7:c.1661C>A (GPSM2) | ENSP00000264126.3:p.Ser554Ter | |
| ENST00000357393.5:c.114+39301G>T | ENSP00000349968.5:n.114+39301G>T | |
| ENST00000406462.6:c.1661C>A (GPSM2) | ENSP00000385510.1:p.Ser554Ter | |
| ENST00000441735.1:c.430C>A (GPSM2) | ||
| NM_013296.4:c.1661C>A (GPSM2) | NP_037428.3:p.Ser554Ter | |
| XM_005270787.2:c.1661C>A (GPSM2) | XP_005270844.1:p.Ser554Ter | |
| XM_006710589.1:c.1604C>A (GPSM2) | XP_006710652.1:p.Ser535Ter | |
| XM_011541301.1:c.1661C>A (GPSM2) | XP_011539603.1:p.Ser554Ter | |
| XM_011541302.1:c.1661C>A (GPSM2) | XP_011539604.1:p.Ser554Ter | |
| NM_001321038.1:c.1661C>A (GPSM2) | NP_001307967.1:p.Ser554Ter | |
| NM_001321039.1:c.1661C>A (GPSM2) | NP_001307968.1:p.Ser554Ter | |
| XM_006710589.3:c.1604C>A (GPSM2) | XP_006710652.1:p.Ser535Ter | |
| XM_011541301.2:c.1661C>A (GPSM2) | XP_011539603.1:p.Ser554Ter | |
| XM_011541302.3:c.1661C>A (GPSM2) | XP_011539604.1:p.Ser554Ter | |
| XM_017001097.2:c.1661C>A (GPSM2) | XP_016856586.1:p.Ser554Ter | |
| XM_017001098.2:c.1661C>A (GPSM2) | XP_016856587.1:p.Ser554Ter | |
| NM_013296.5:c.1661C>A (GPSM2) MANE Select | NP_037428.3:p.Ser554Ter | |
| NM_001321038.2:c.1661C>A (GPSM2) | NP_001307967.1:p.Ser554Ter | |
| NM_001321039.2:c.1661C>A (GPSM2) | NP_001307968.1:p.Ser554Ter | |
| NM_001321039.3:c.1661C>A (GPSM2) | NP_001307968.1:p.Ser554Ter |