Linked Data
ClinVar Variation Id:
253159
ClinVar RCV Id:
RCV000239526
dbSNP Id:
rs145555213
gnomAD v2:
6-5369227-G-T
gnomAD v4:
6-5368994-G-T
PubMed:
PMID:26553276
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.5368994G>T , CM000668.2:g.5368994G>T | GRCh38 |
| NC_000006.11:g.5369227G>T , CM000668.1:g.5369227G>T | GRCh37 |
| NC_000006.10:g.5314226G>T | NCBI36 |
| NG_033003.1:g.112644G>T | |
| NG_033003.2:g.112644G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274680.9:c.424G>T MANE Select | ENSP00000274680.4:p.Asp142Tyr | |
| ENST00000648580.1:c.424G>T | ENSP00000497889.1:p.Asp142Tyr | |
| ENST00000274680.8:c.424G>T | ENSP00000274680.3:p.Asp142Tyr | |
| ENST00000324331.10:c.424G>T | ENSP00000316335.5:p.Asp142Tyr | |
| NM_006567.3:c.424G>T | NP_006558.1:p.Asp142Tyr | |
| XM_005248811.1:c.424G>T | XP_005248868.1:p.Asp142Tyr | |
| XM_005248812.2:c.424G>T | XP_005248869.1:p.Asp142Tyr | |
| XM_006714966.1:c.424G>T | XP_006715029.1:p.Asp142Tyr | |
| XM_011514247.1:c.424G>T | XP_011512549.1:p.Asp142Tyr | |
| XM_011514248.1:c.424G>T | XP_011512550.1:p.Asp142Tyr | |
| XM_011514249.1:c.424G>T | XP_011512551.1:p.Asp142Tyr | |
| XM_011514250.1:c.424G>T | XP_011512552.1:p.Asp142Tyr | |
| XM_011514251.1:c.424G>T | XP_011512553.1:p.Asp142Tyr | |
| XR_926026.1:n.755G>T | ||
| XR_926027.1:n.755G>T | ||
| XR_926028.1:n.755G>T | ||
| NM_001318872.1:c.424G>T | NP_001305801.1:p.Asp142Tyr | |
| NM_006567.4:c.424G>T | NP_006558.1:p.Asp142Tyr | |
| XM_005248812.3:c.424G>T | XP_005248869.1:p.Asp142Tyr | |
| XM_006714966.3:c.424G>T | XP_006715029.1:p.Asp142Tyr | |
| XM_011514247.3:c.424G>T | XP_011512549.1:p.Asp142Tyr | |
| XM_011514248.3:c.424G>T | XP_011512550.1:p.Asp142Tyr | |
| XM_011514249.2:c.424G>T | XP_011512551.1:p.Asp142Tyr | |
| XM_011514251.3:c.424G>T | XP_011512553.1:p.Asp142Tyr | |
| XM_017010186.1:c.424G>T | XP_016865675.1:p.Asp142Tyr | |
| XM_017010187.1:c.424G>T | XP_016865676.1:p.Asp142Tyr | |
| XR_926027.3:n.732G>T | ||
| XR_926028.2:n.732G>T | ||
| NM_001318872.2:c.424G>T | NP_001305801.1:p.Asp142Tyr | |
| NM_001374875.1:c.424G>T | NP_001361804.1:p.Asp142Tyr | |
| NM_001374876.1:c.424G>T | NP_001361805.1:p.Asp142Tyr | |
| NM_001374877.1:c.424G>T | NP_001361806.1:p.Asp142Tyr | |
| NM_001374878.1:c.424G>T | NP_001361807.1:p.Asp142Tyr | |
| NM_001374879.1:c.424G>T | NP_001361808.1:p.Asp142Tyr | |
| NM_001375257.1:c.424G>T | NP_001362186.1:p.Asp142Tyr | |
| NM_001375258.1:c.424G>T | NP_001362187.1:p.Asp142Tyr | |
| NM_001375259.1:c.-84-35548G>T | NP_001362188.1:n.-84-35548G>T | |
| NM_001375260.1:c.-340-27639G>T | NP_001362189.1:n.-340-27639G>T | |
| NM_006567.5:c.424G>T MANE Select | NP_006558.1:p.Asp142Tyr |