Linked Data
ClinVar Variation Id:
2419934
ClinVar RCV Id:
RCV003118459
dbSNP Id:
rs767135968
ExAC:
11:125880423 C / T
gnomAD v2:
11-125880423-C-T
gnomAD v3:
11-126010528-C-T
gnomAD v4:
11-126010528-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126010528C>T , CM000673.2:g.126010528C>T | GRCh38 |
| NC_000011.9:g.125880423C>T , CM000673.1:g.125880423C>T | GRCh37 |
| NC_000011.8:g.125385633C>T | NCBI36 |
| NG_029776.1:g.57765G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683716.1:c.1365G>A | ENSP00000506883.1:p.Ser455= | |
| ENST00000684078.1:c.1365G>A | ENSP00000507318.1:p.Ser455= | |
| ENST00000684167.1:n.1764G>A | ||
| ENST00000684564.1:n.1575G>A | ||
| ENST00000684636.1:c.1365G>A | ENSP00000508160.1:p.Ser455= | |
| ENST00000531738.6:c.1365G>A MANE Select | ENSP00000432901.2:p.Ser455= | |
| ENST00000531830.2:c.1495G>A | ||
| ENST00000263577.11:c.1365G>A | ENSP00000263577.7:p.Ser455= | |
| ENST00000392693.7:c.1365G>A | ENSP00000376458.3:p.Ser455= | |
| ENST00000531830.1:c.977G>A | ||
| ENST00000534661.5:c.1291G>A | ||
| NM_001243597.1:c.1365G>A | NP_001230526.1:p.Ser455= | |
| NM_016952.4:c.1365G>A | NP_058648.4:p.Ser455= | |
| XM_011542862.1:c.1365G>A | XP_011541164.1:p.Ser455= | |
| XM_011542863.1:c.1365G>A | XP_011541165.1:p.Ser455= | |
| XM_011542864.1:c.1365G>A | XP_011541166.1:p.Ser455= | |
| XM_011542865.1:c.1365G>A | XP_011541167.1:p.Ser455= | |
| XM_011542866.1:c.1365G>A | XP_011541168.1:p.Ser455= | |
| XM_011542862.3:c.1365G>A | XP_011541164.1:p.Ser455= | |
| XM_011542863.2:c.1365G>A | XP_011541165.1:p.Ser455= | |
| XM_011542864.2:c.1365G>A | XP_011541166.1:p.Ser455= | |
| XM_011542865.2:c.1365G>A | XP_011541167.1:p.Ser455= | |
| XM_011542866.3:c.1365G>A | XP_011541168.1:p.Ser455= | |
| XM_017017873.1:c.1365G>A | XP_016873362.1:p.Ser455= | |
| XR_001747899.2:n.1676G>A | ||
| NM_001243597.2:c.1365G>A | NP_001230526.1:p.Ser455= | |
| NM_001378964.1:c.1365G>A MANE Select | NP_001365893.1:p.Ser455= | |
| NM_016952.5:c.1365G>A | NP_058648.4:p.Ser455= |