Linked Data
ClinVar Variation Id:
335158
dbSNP Id:
rs886055812
gnomAD v2:
2-240897422-C-T
gnomAD v3:
2-239958005-C-T
gnomAD v4:
2-239958005-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.239958005C>T , CM000664.2:g.239958005C>T | GRCh38 |
| NC_000002.11:g.240897422C>T , CM000664.1:g.240897422C>T | GRCh37 |
| NC_000002.10:g.240546095C>T | NCBI36 |
| NG_031855.1:g.72398G>A | |
| NG_031855.2:g.72398G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252711.7:c.*3113G>A MANE Select | ENSP00000252711.2:n.*3113G>A | |
| ENST00000476216.6:n.7320G>A | ||
| ENST00000676491.1:c.*946G>A | ENSP00000504528.1:n.*946G>A | |
| ENST00000676782.1:c.1000-19295G>A | ENSP00000504717.1:n.1000-19295G>A | |
| ENST00000676929.1:c.*1128G>A | ENSP00000503956.1:n.*1128G>A | |
| ENST00000677057.1:n.4029-45015G>A | ||
| ENST00000677155.1:c.*3370G>A | ENSP00000502921.1:n.*3370G>A | |
| ENST00000677294.1:c.*3113G>A | ENSP00000503461.1:n.*3113G>A | |
| ENST00000677324.1:n.6678G>A | ||
| ENST00000677395.1:c.*5877G>A | ENSP00000502890.1:n.*5877G>A | |
| ENST00000677407.1:c.1000-6987G>A | ENSP00000503141.1:n.1000-6987G>A | |
| ENST00000677692.1:n.5293G>A | ||
| ENST00000677764.1:c.*3492G>A | ENSP00000504547.1:n.*3492G>A | |
| ENST00000677979.1:c.*3660G>A | ENSP00000503341.1:n.*3660G>A | |
| ENST00000678158.1:c.*1196G>A | ENSP00000504765.1:n.*1196G>A | |
| ENST00000678188.1:n.7402G>A | ||
| ENST00000678455.1:c.*3113G>A | ENSP00000504395.1:n.*3113G>A | |
| ENST00000678468.1:c.*3719G>A | ENSP00000503925.1:n.*3719G>A | |
| ENST00000678562.1:c.*7016G>A | ENSP00000502954.1:n.*7016G>A | |
| ENST00000678832.1:c.*3837G>A | ENSP00000502992.1:n.*3837G>A | |
| ENST00000678914.1:c.*3113G>A | ENSP00000504515.1:n.*3113G>A | |
| ENST00000679183.1:c.999+32069G>A | ENSP00000503016.1:n.999+32069G>A | |
| ENST00000252711.6:c.*3113G>A | ENSP00000252711.2:n.*3113G>A | |
| ENST00000419408.5:c.294+32069G>A | ENSP00000408055.1:n.294+32069G>A | |
| NM_004544.3:c.*3113G>A | NP_004535.1:n.*3113G>A | |
| NM_001322020.1:c.*3118G>A | NP_001308949.1:n.*3118G>A | |
| NR_136155.1:n.7324G>A | ||
| NR_136156.1:n.7215G>A | ||
| NR_136157.1:n.7155G>A | ||
| NR_136158.1:n.4034-45015G>A | ||
| NM_004544.4:c.*3113G>A MANE Select | NP_004535.1:n.*3113G>A | |
| NM_001322020.2:c.*3118G>A | NP_001308949.1:n.*3118G>A | |
| NR_136155.2:n.7264G>A | ||
| NR_136156.2:n.7155G>A | ||
| NR_136157.2:n.7095G>A | ||
| NR_136158.2:n.3974-45015G>A |