Linked Data
ClinVar Variation Id:
335157
dbSNP Id:
rs144864637
gnomAD v2:
2-240897394-G-A
gnomAD v3:
2-239957977-G-A
gnomAD v4:
2-239957977-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.239957977G>A , CM000664.2:g.239957977G>A | GRCh38 |
| NC_000002.11:g.240897394G>A , CM000664.1:g.240897394G>A | GRCh37 |
| NC_000002.10:g.240546067G>A | NCBI36 |
| NG_031855.1:g.72426C>T | |
| NG_031855.2:g.72426C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252711.7:c.*3141C>T MANE Select | ENSP00000252711.2:n.*3141C>T | |
| ENST00000476216.6:n.7348C>T | ||
| ENST00000676491.1:c.*974C>T | ENSP00000504528.1:n.*974C>T | |
| ENST00000676782.1:c.1000-19267C>T | ENSP00000504717.1:n.1000-19267C>T | |
| ENST00000676929.1:c.*1156C>T | ENSP00000503956.1:n.*1156C>T | |
| ENST00000677057.1:n.4029-44987C>T | ||
| ENST00000677155.1:c.*3398C>T | ENSP00000502921.1:n.*3398C>T | |
| ENST00000677294.1:c.*3141C>T | ENSP00000503461.1:n.*3141C>T | |
| ENST00000677324.1:n.6706C>T | ||
| ENST00000677395.1:c.*5905C>T | ENSP00000502890.1:n.*5905C>T | |
| ENST00000677407.1:c.1000-6959C>T | ENSP00000503141.1:n.1000-6959C>T | |
| ENST00000677692.1:n.5321C>T | ||
| ENST00000677764.1:c.*3520C>T | ENSP00000504547.1:n.*3520C>T | |
| ENST00000677979.1:c.*3688C>T | ENSP00000503341.1:n.*3688C>T | |
| ENST00000678158.1:c.*1224C>T | ENSP00000504765.1:n.*1224C>T | |
| ENST00000678188.1:n.7430C>T | ||
| ENST00000678455.1:c.*3141C>T | ENSP00000504395.1:n.*3141C>T | |
| ENST00000678468.1:c.*3747C>T | ENSP00000503925.1:n.*3747C>T | |
| ENST00000678562.1:c.*7044C>T | ENSP00000502954.1:n.*7044C>T | |
| ENST00000678832.1:c.*3865C>T | ENSP00000502992.1:n.*3865C>T | |
| ENST00000678914.1:c.*3141C>T | ENSP00000504515.1:n.*3141C>T | |
| ENST00000679183.1:c.999+32097C>T | ENSP00000503016.1:n.999+32097C>T | |
| ENST00000252711.6:c.*3141C>T | ENSP00000252711.2:n.*3141C>T | |
| ENST00000419408.5:c.294+32097C>T | ENSP00000408055.1:n.294+32097C>T | |
| NM_004544.3:c.*3141C>T | NP_004535.1:n.*3141C>T | |
| NM_001322020.1:c.*3146C>T | NP_001308949.1:n.*3146C>T | |
| NR_136155.1:n.7352C>T | ||
| NR_136156.1:n.7243C>T | ||
| NR_136157.1:n.7183C>T | ||
| NR_136158.1:n.4034-44987C>T | ||
| NM_004544.4:c.*3141C>T MANE Select | NP_004535.1:n.*3141C>T | |
| NM_001322020.2:c.*3146C>T | NP_001308949.1:n.*3146C>T | |
| NR_136155.2:n.7292C>T | ||
| NR_136156.2:n.7183C>T | ||
| NR_136157.2:n.7123C>T | ||
| NR_136158.2:n.3974-44987C>T |