Linked Data
ClinVar Variation Id:
31213
ClinVar RCV Id:
RCV000024212
dbSNP Id:
rs387907142
PubMed:
PMID:22426308
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.156901502C>T , CM000668.2:g.156901502C>T | GRCh38 |
| NC_000006.11:g.157222636C>T , CM000668.1:g.157222636C>T | GRCh37 |
| NC_000006.10:g.157264328C>T | NCBI36 |
| NG_032093.1:g.128573C>T | |
| NG_032093.2:g.128573C>T | |
| NG_066624.1:g.130477C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350026.11:c.2113C>T | ENSP00000055163.8:p.Gln705Ter | |
| ENST00000414678.8:c.2113C>T | ENSP00000412835.3:p.Gln705Ter | |
| ENST00000637015.2:c.2113C>T | ENSP00000489729.2:p.Gln705Ter | |
| ENST00000319584.11:c.127C>T | ENSP00000313006.7:p.Gln43Ter | |
| ENST00000346085.10:c.2152C>T | ENSP00000344546.5:p.Gln718Ter | |
| ENST00000350026.10:c.1864C>T | ENSP00000055163.7:p.Gln622Ter | |
| ENST00000414678.7:c.361C>T | ENSP00000412835.2:p.Gln121Ter | |
| ENST00000636205.1:n.176C>T | ||
| ENST00000636748.1:c.394C>T | ENSP00000489917.1:p.Gln132Ter | |
| ENST00000636930.2:c.2113C>T MANE Select | ENSP00000490491.2:p.Gln705Ter | |
| ENST00000637532.1:c.139C>T | ENSP00000490420.1:p.Gln47Ter | |
| ENST00000638000.1:c.330C>T | ||
| ENST00000647938.1:c.1903C>T | ENSP00000498155.1:p.Gln635Ter | |
| ENST00000674190.1:n.820C>T | ||
| ENST00000674298.1:c.1853C>T | ||
| ENST00000319584.10:c.130C>T | ENSP00000313006.6:p.Gln44Ter | |
| ENST00000346085.9:c.1903C>T | ENSP00000344546.4:p.Gln635Ter | |
| ENST00000350026.9:c.1864C>T | ENSP00000055163.7:p.Gln622Ter | |
| ENST00000414678.6:c.361C>T | ENSP00000412835.2:p.Gln121Ter | |
| NM_017519.2:c.1864C>T | NP_059989.2:p.Gln622Ter | |
| NM_020732.3:c.1903C>T | NP_065783.3:p.Gln635Ter | |
| XM_005267069.3:c.1864C>T | XP_005267126.2:p.Gln622Ter | |
| XM_011535984.1:c.772C>T | XP_011534286.1:p.Gln258Ter | |
| XM_011535985.1:c.772C>T | XP_011534287.1:p.Gln258Ter | |
| XM_011535986.1:c.352C>T | XP_011534288.1:p.Gln118Ter | |
| NM_001346813.1:c.1864C>T | NP_001333742.1:p.Gln622Ter | |
| XM_011535984.2:c.1903C>T | XP_011534286.2:p.Gln635Ter | |
| XM_017011103.2:c.1903C>T | XP_016866592.1:p.Gln635Ter | |
| XM_017011104.1:c.1903C>T | XP_016866593.1:p.Gln635Ter | |
| XM_017011105.2:c.1903C>T | XP_016866594.1:p.Gln635Ter | |
| XM_017011106.2:c.1903C>T | XP_016866595.1:p.Gln635Ter | |
| XM_017011107.2:c.1903C>T | XP_016866596.1:p.Gln635Ter | |
| XR_002956289.1:n.1986C>T | ||
| NM_001371656.1:c.2152C>T | NP_001358585.1:p.Gln718Ter | |
| NM_001374820.1:c.2152C>T | NP_001361749.1:p.Gln718Ter | |
| NM_001374828.1:c.2113C>T MANE Select | NP_001361757.1:p.Gln705Ter | |
| NM_017519.3:c.2113C>T | NP_059989.3:p.Gln705Ter |