Linked Data
ClinVar Variation Id:
335155
dbSNP Id:
rs886055811
gnomAD v2:
2-240897330-C-T
gnomAD v3:
2-239957913-C-T
gnomAD v4:
2-239957913-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.239957913C>T , CM000664.2:g.239957913C>T | GRCh38 |
| NC_000002.11:g.240897330C>T , CM000664.1:g.240897330C>T | GRCh37 |
| NC_000002.10:g.240546003C>T | NCBI36 |
| NG_031855.1:g.72490G>A | |
| NG_031855.2:g.72490G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252711.7:c.*3205G>A MANE Select | ENSP00000252711.2:n.*3205G>A | |
| ENST00000476216.6:n.7412G>A | ||
| ENST00000676491.1:c.*1038G>A | ENSP00000504528.1:n.*1038G>A | |
| ENST00000676782.1:c.1000-19203G>A | ENSP00000504717.1:n.1000-19203G>A | |
| ENST00000676929.1:c.*1220G>A | ENSP00000503956.1:n.*1220G>A | |
| ENST00000677057.1:n.4029-44923G>A | ||
| ENST00000677155.1:c.*3462G>A | ENSP00000502921.1:n.*3462G>A | |
| ENST00000677294.1:c.*3205G>A | ENSP00000503461.1:n.*3205G>A | |
| ENST00000677324.1:n.6770G>A | ||
| ENST00000677395.1:c.*5969G>A | ENSP00000502890.1:n.*5969G>A | |
| ENST00000677407.1:c.1000-6895G>A | ENSP00000503141.1:n.1000-6895G>A | |
| ENST00000677692.1:n.5385G>A | ||
| ENST00000677764.1:c.*3584G>A | ENSP00000504547.1:n.*3584G>A | |
| ENST00000677979.1:c.*3752G>A | ENSP00000503341.1:n.*3752G>A | |
| ENST00000678158.1:c.*1288G>A | ENSP00000504765.1:n.*1288G>A | |
| ENST00000678188.1:n.7494G>A | ||
| ENST00000678455.1:c.*3205G>A | ENSP00000504395.1:n.*3205G>A | |
| ENST00000678468.1:c.*3811G>A | ENSP00000503925.1:n.*3811G>A | |
| ENST00000678562.1:c.*7108G>A | ENSP00000502954.1:n.*7108G>A | |
| ENST00000678832.1:c.*3929G>A | ENSP00000502992.1:n.*3929G>A | |
| ENST00000678914.1:c.*3205G>A | ENSP00000504515.1:n.*3205G>A | |
| ENST00000679183.1:c.999+32161G>A | ENSP00000503016.1:n.999+32161G>A | |
| ENST00000252711.6:c.*3205G>A | ENSP00000252711.2:n.*3205G>A | |
| ENST00000419408.5:c.294+32161G>A | ENSP00000408055.1:n.294+32161G>A | |
| NM_004544.3:c.*3205G>A | NP_004535.1:n.*3205G>A | |
| NM_001322020.1:c.*3210G>A | NP_001308949.1:n.*3210G>A | |
| NR_136155.1:n.7416G>A | ||
| NR_136156.1:n.7307G>A | ||
| NR_136157.1:n.7247G>A | ||
| NR_136158.1:n.4034-44923G>A | ||
| NM_004544.4:c.*3205G>A MANE Select | NP_004535.1:n.*3205G>A | |
| NM_001322020.2:c.*3210G>A | NP_001308949.1:n.*3210G>A | |
| NR_136155.2:n.7356G>A | ||
| NR_136156.2:n.7247G>A | ||
| NR_136157.2:n.7187G>A | ||
| NR_136158.2:n.3974-44923G>A |