Linked Data
ClinVar Variation Id:
2416081
ClinVar RCV Id:
RCV003106830
dbSNP Id:
rs764205718
ExAC:
6:2955818 C / A
gnomAD v2:
6-2955818-C-A
gnomAD v3:
6-2955584-C-A
gnomAD v4:
6-2955584-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.2955584C>A , CM000668.2:g.2955584C>A | GRCh38 |
| NC_000006.11:g.2955818C>A , CM000668.1:g.2955818C>A | GRCh37 |
| NC_000006.10:g.2900817C>A | NCBI36 |
| NG_027692.1:g.21582G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380520.6:c.252G>T | ENSP00000369891.1:p.Thr84= | |
| ENST00000380539.7:c.252G>T MANE Select | ENSP00000369912.2:p.Thr84= | |
| ENST00000612421.3:c.309G>T | ENSP00000484343.1:p.Thr103= | |
| ENST00000616722.4:c.264G>T | ENSP00000481398.1:p.Thr88= | |
| ENST00000642543.1:c.120G>T | ENSP00000494161.1:p.Thr40= | |
| ENST00000643098.1:c.252G>T | ENSP00000493936.1:p.Thr84= | |
| ENST00000643314.1:n.2247G>T | ||
| ENST00000644178.1:c.252G>T | ENSP00000496073.1:p.Thr84= | |
| ENST00000644388.1:c.252G>T | ENSP00000494650.1:p.Thr84= | |
| ENST00000644693.1:c.*125G>T | ENSP00000495361.1:n.*125G>T | |
| ENST00000644697.1:n.299G>T | ||
| ENST00000644828.1:c.90G>T | ENSP00000495086.1:p.Thr30= | |
| ENST00000645580.1:c.264G>T | ENSP00000495362.1:p.Thr88= | |
| ENST00000646722.1:n.1171G>T | ||
| ENST00000646775.1:c.-16G>T | ENSP00000496225.1:n.-16G>T | |
| ENST00000647157.1:n.2586G>T | ||
| ENST00000649845.1:c.*366G>T | ENSP00000497149.1:n.*366G>T | |
| ENST00000335686.9:c.252G>T | ENSP00000338358.5:p.Thr84= | |
| ENST00000380520.5:c.252G>T | ENSP00000369891.1:p.Thr84= | |
| ENST00000380524.5:c.252G>T | ENSP00000369896.1:p.Thr84= | |
| ENST00000380529.5:c.252G>T | ENSP00000369901.1:p.Thr84= | |
| ENST00000380539.5:c.252G>T | ENSP00000369912.1:p.Thr84= | |
| ENST00000380546.7:c.252G>T | ENSP00000369919.3:p.Thr84= | |
| ENST00000612421.2:c.309G>T | ENSP00000484343.1:p.Thr103= | |
| ENST00000616722.3:c.264G>T | ENSP00000481398.1:p.Thr88= | |
| NM_001195291.2:c.264G>T | NP_001182220.2:p.Thr88= | |
| NM_001271822.1:c.294G>T | NP_001258751.1:p.Thr98= | |
| NM_001271823.1:c.309G>T | NP_001258752.1:p.Thr103= | |
| NM_001271824.1:c.252G>T | NP_001258753.1:p.Thr84= | |
| NM_001271825.1:c.252G>T | NP_001258754.1:p.Thr84= | |
| NM_001297699.1:c.252G>T | NP_001284628.1:p.Thr84= | |
| NM_001297700.1:c.252G>T | NP_001284629.1:p.Thr84= | |
| NM_004568.5:c.252G>T | NP_004559.4:p.Thr84= | |
| XM_011514672.1:c.486G>T | XP_011512974.1:p.Thr162= | |
| XM_011514673.1:c.252G>T | XP_011512975.1:p.Thr84= | |
| XM_011514674.1:c.252G>T | XP_011512976.1:p.Thr84= | |
| XM_011514675.1:c.120G>T | XP_011512977.1:p.Thr40= | |
| XM_011514676.1:c.120G>T | XP_011512978.1:p.Thr40= | |
| XM_011514674.2:c.252G>T | XP_011512976.1:p.Thr84= | |
| XM_011514676.2:c.120G>T | XP_011512978.1:p.Thr40= | |
| XM_017010940.1:c.264G>T | XP_016866429.1:p.Thr88= | |
| XM_017010941.1:c.120G>T | XP_016866430.1:p.Thr40= | |
| XM_024446462.1:c.264G>T | XP_024302230.1:p.Thr88= | |
| XM_024446463.1:c.264G>T | XP_024302231.1:p.Thr88= | |
| XM_024446464.1:c.252G>T | XP_024302232.1:p.Thr84= | |
| XM_024446465.1:c.120G>T | XP_024302233.1:p.Thr40= | |
| NM_001195291.3:c.264G>T | NP_001182220.2:p.Thr88= | |
| NM_001271822.2:c.294G>T | NP_001258751.1:p.Thr98= | |
| NM_001271823.2:c.309G>T | NP_001258752.1:p.Thr103= | |
| NM_001271824.2:c.252G>T | NP_001258753.1:p.Thr84= | |
| NM_001271825.2:c.252G>T | NP_001258754.1:p.Thr84= | |
| NM_001297699.2:c.252G>T | NP_001284628.1:p.Thr84= | |
| NM_001297700.2:c.252G>T | NP_001284629.1:p.Thr84= | |
| NM_001374515.1:c.264G>T | NP_001361444.1:p.Thr88= | |
| NM_001374516.1:c.252G>T | NP_001361445.1:p.Thr84= | |
| NM_001374517.1:c.120G>T | NP_001361446.1:p.Thr40= | |
| NM_004568.6:c.252G>T MANE Select | NP_004559.4:p.Thr84= | |
| NR_164657.1:n.297G>T |