Linked Data
ClinVar Variation Id:
299022
dbSNP Id:
rs41301545
gnomAD v2:
10-123357683-G-A
gnomAD v3:
10-121598169-G-A
gnomAD v4:
10-121598169-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121598169G>A , CM000672.2:g.121598169G>A | GRCh38 |
| NC_000010.10:g.123357683G>A , CM000672.1:g.123357683G>A | GRCh37 |
| NC_000010.9:g.123347673G>A | NCBI36 |
| NG_012449.1:g.5290C>T | |
| NG_012449.2:g.5290C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457416.7:c.-358C>T MANE Plus Clinical | ENSP00000410294.2:n.-358C>T | |
| ENST00000684153.1:c.-358C>T | ENSP00000506937.1:n.-358C>T | |
| ENST00000358487.10:c.-358C>T MANE Select | ENSP00000351276.6:n.-358C>T | |
| ENST00000336553.10:c.-358C>T | ENSP00000337665.6:n.-358C>T | |
| ENST00000356226.8:c.-358C>T | ENSP00000348559.4:n.-358C>T | |
| ENST00000359354.6:c.-358C>T | ENSP00000352309.2:n.-358C>T | |
| ENST00000360144.7:c.-358C>T | ENSP00000353262.3:n.-358C>T | |
| ENST00000369058.7:c.-358C>T | ENSP00000358054.3:n.-358C>T | |
| ENST00000369059.5:c.-358C>T | ENSP00000358055.1:n.-358C>T | |
| ENST00000369060.8:c.-358C>T | ENSP00000358056.4:n.-358C>T | |
| ENST00000457416.6:c.-358C>T | ENSP00000410294.2:n.-358C>T | |
| ENST00000604236.5:c.-358C>T | ENSP00000474109.1:n.-358C>T | |
| ENST00000613048.4:c.-358C>T | ENSP00000484154.1:n.-358C>T | |
| NM_000141.4:c.-358C>T | NP_000132.3:n.-358C>T | |
| NM_001144917.1:c.-358C>T | NP_001138389.1:n.-358C>T | |
| NM_001144918.1:c.-358C>T | NP_001138390.1:n.-358C>T | |
| NM_001144919.1:c.-358C>T | NP_001138391.1:n.-358C>T | |
| NM_022970.3:c.-358C>T | NP_075259.4:n.-358C>T | |
| NR_073009.1:n.290C>T | ||
| XM_006717708.2:c.-301C>T | XP_006717771.1:n.-301C>T | |
| XM_006717709.2:c.-301C>T | XP_006717772.1:n.-301C>T | |
| XM_006717710.2:c.-301C>T | XP_006717773.1:n.-301C>T | |
| XM_006717713.2:c.-301C>T | XP_006717776.1:n.-301C>T | |
| NM_001320658.1:c.-358C>T | NP_001307587.1:n.-358C>T | |
| XM_017015925.2:c.-301C>T | XP_016871414.1:n.-301C>T | |
| XM_024447890.1:c.-301C>T | XP_024303658.1:n.-301C>T | |
| NM_000141.5:c.-358C>T MANE Select | NP_000132.3:n.-358C>T | |
| NM_001144917.2:c.-358C>T | NP_001138389.1:n.-358C>T | |
| NM_001144918.2:c.-358C>T | NP_001138390.1:n.-358C>T | |
| NM_001144919.2:c.-358C>T | NP_001138391.1:n.-358C>T | |
| NM_001320658.2:c.-358C>T | NP_001307587.1:n.-358C>T | |
| NR_073009.2:n.276C>T |