Linked Data
ClinVar Variation Id:
402423
ClinVar RCV Id:
RCV000455555
dbSNP Id:
rs141173428
ExAC:
6:136599391 C / T
gnomAD v2:
6-136599391-C-T
gnomAD v3:
6-136278253-C-T
gnomAD v4:
6-136278253-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136278253C>T , CM000668.2:g.136278253C>T | GRCh38 |
| NC_000006.11:g.136599391C>T , CM000668.1:g.136599391C>T | GRCh37 |
| NC_000006.10:g.136641084C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531224.6:c.628G>A MANE Select | ENSP00000435210.1:p.Gly210Ser | |
| ENST00000640069.1:c.628G>A | ENSP00000491530.1:p.Gly210Ser | |
| ENST00000353331.8:c.622G>A | ENSP00000229446.5:p.Gly208Ser | |
| ENST00000392348.6:c.622G>A | ENSP00000376159.2:p.Gly208Ser | |
| ENST00000527536.5:c.628G>A | ENSP00000435441.1:p.Gly210Ser | |
| ENST00000527613.5:c.628G>A | ENSP00000436216.1:p.Gly210Ser | |
| ENST00000527759.5:c.622G>A | ENSP00000434826.1:p.Gly208Ser | |
| ENST00000529826.5:c.628G>A | ENSP00000431734.1:p.Gly210Ser | |
| ENST00000530429.5:c.622G>A | ENSP00000436142.1:p.Gly208Ser | |
| ENST00000530767.5:c.628G>A | ENSP00000436501.1:p.Gly210Ser | |
| ENST00000531224.5:c.628G>A | ENSP00000435210.1:p.Gly210Ser | |
| ENST00000532384.5:c.628G>A | ENSP00000433505.1:p.Gly210Ser | |
| ENST00000534269.5:c.622G>A | ENSP00000433822.1:p.Gly208Ser | |
| ENST00000628517.2:c.628G>A | ENSP00000487249.1:p.Gly210Ser | |
| NM_001077440.1:c.622G>A | NP_001070908.1:p.Gly208Ser | |
| NM_001077441.1:c.628G>A | NP_001070909.1:p.Gly210Ser | |
| NM_001301038.1:c.622G>A | NP_001287967.1:p.Gly208Ser | |
| NM_014739.2:c.628G>A | NP_055554.1:p.Gly210Ser | |
| XM_005267237.2:c.628G>A | XP_005267294.1:p.Gly210Ser | |
| XM_005267238.2:c.628G>A | XP_005267295.1:p.Gly210Ser | |
| XR_245558.2:n.1675G>A | ||
| XR_245559.2:n.1675G>A | ||
| XR_942640.1:n.1675G>A | ||
| NM_001363659.1:c.628G>A | NP_001350588.1:p.Gly210Ser | |
| XM_017011529.2:c.622G>A | XP_016867018.1:p.Gly208Ser | |
| XM_017011530.2:c.628G>A | XP_016867019.1:p.Gly210Ser | |
| XM_017011531.2:c.622G>A | XP_016867020.1:p.Gly208Ser | |
| XM_017011532.2:c.-1433G>A | XP_016867021.1:n.-1433G>A | |
| XR_001743764.2:n.874G>A | ||
| XR_001743766.2:n.811G>A | ||
| XR_001743768.2:n.874G>A | ||
| XR_001743769.2:n.874G>A | ||
| XR_001743770.2:n.874G>A | ||
| XR_001743771.1:n.811G>A | ||
| XR_002956319.1:n.874G>A | ||
| XR_245558.4:n.874G>A | ||
| XR_245559.4:n.874G>A | ||
| NM_001077441.2:c.628G>A | NP_001070909.1:p.Gly210Ser | |
| NM_001301038.2:c.622G>A | NP_001287967.1:p.Gly208Ser | |
| NM_001363659.2:c.628G>A | NP_001350588.1:p.Gly210Ser | |
| NM_014739.3:c.628G>A MANE Select | NP_055554.1:p.Gly210Ser | |
| NM_001077440.3:c.622G>A | NP_001070908.1:p.Gly208Ser | |
| NM_001077441.3:c.628G>A | NP_001070909.1:p.Gly210Ser | |
| NM_001301038.3:c.622G>A | NP_001287967.1:p.Gly208Ser | |
| NM_001363659.3:c.628G>A | NP_001350588.1:p.Gly210Ser | |
| NM_001386693.1:c.628G>A | NP_001373622.1:p.Gly210Ser | |
| NM_001386694.1:c.628G>A | NP_001373623.1:p.Gly210Ser | |
| NM_001386695.1:c.628G>A | NP_001373624.1:p.Gly210Ser | |
| NM_001386696.1:c.622G>A | NP_001373625.1:p.Gly208Ser | |
| NM_001386697.1:c.628G>A | NP_001373626.1:p.Gly210Ser | |
| NM_001386698.1:c.622G>A | NP_001373627.1:p.Gly208Ser | |
| NM_001386699.1:c.628G>A | NP_001373628.1:p.Gly210Ser | |
| NM_001386700.1:c.628G>A | NP_001373629.1:p.Gly210Ser | |
| NM_001386701.1:c.628G>A | NP_001373630.1:p.Gly210Ser | |
| NM_001386702.1:c.628G>A | NP_001373631.1:p.Gly210Ser | |
| NM_001386703.1:c.622G>A | NP_001373632.1:p.Gly208Ser | |
| NM_001386704.1:c.628G>A | NP_001373633.1:p.Gly210Ser | |
| NR_170164.1:n.876G>A | ||
| NR_170165.1:n.876G>A | ||
| NR_170166.1:n.870G>A | ||
| NR_170167.1:n.876G>A | ||
| NR_170168.1:n.876G>A | ||
| NR_170169.1:n.876G>A | ||
| NR_170170.1:n.876G>A |