Linked Data
ClinVar Variation Id:
1668322
ClinVar RCV Id:
RCV002191772
dbSNP Id:
rs1376941419
gnomAD v4:
5-148394913-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148394913G>T , CM000667.2:g.148394913G>T | GRCh38 |
| NC_000005.9:g.147774476G>T , CM000667.1:g.147774476G>T | GRCh37 |
| NC_000005.8:g.147754669G>T | NCBI36 |
| NG_033871.1:g.15979G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340253.10:c.128+9G>T MANE Select | ENSP00000342023.6:n.128+9G>T | |
| ENST00000296701.10:c.128+9G>T | ENSP00000296701.6:n.128+9G>T | |
| ENST00000340253.9:c.128+9G>T | ENSP00000342023.5:n.128+9G>T | |
| ENST00000394370.7:c.128+9G>T | ENSP00000377895.3:n.128+9G>T | |
| ENST00000503613.5:n.279+9G>T | ||
| ENST00000508326.5:n.229+9G>T | ||
| ENST00000509411.5:n.222+9G>T | ||
| ENST00000509699.6:n.193+9G>T | ||
| ENST00000511080.5:n.221+9G>T | ||
| ENST00000513826.1:c.128+9G>T | ENSP00000426410.1:n.128+9G>T | |
| ENST00000521160.5:n.193+9G>T | ||
| NM_001271723.1:c.128+9G>T | NP_001258652.1:n.128+9G>T | |
| NM_030793.4:c.128+9G>T | NP_110420.3:n.128+9G>T | |
| XM_005268513.1:c.128+9G>T | XP_005268570.1:n.128+9G>T | |
| XM_006714797.1:c.128+9G>T | XP_006714860.1:n.128+9G>T | |
| NM_205836.2:c.128+9G>T | NP_995308.1:n.128+9G>T | |
| XM_006714797.2:c.128+9G>T | XP_006714860.1:n.128+9G>T | |
| XM_011537684.3:c.-1220+9G>T | XP_011535986.1:n.-1220+9G>T | |
| XM_017009899.1:c.-1130+9G>T | XP_016865388.1:n.-1130+9G>T | |
| XM_017009900.2:c.-1379+9G>T | XP_016865389.1:n.-1379+9G>T | |
| XM_017009901.2:c.-1130+9G>T | XP_016865390.1:n.-1130+9G>T | |
| XM_017009902.2:c.-1220+9G>T | XP_016865391.1:n.-1220+9G>T | |
| XM_024446223.1:c.128+9G>T | XP_024301991.1:n.128+9G>T | |
| XR_001742284.1:n.274+9G>T | ||
| NM_030793.5:c.128+9G>T | NP_110420.3:n.128+9G>T | |
| NM_205836.3:c.128+9G>T MANE Select | NP_995308.1:n.128+9G>T | |
| NM_001271723.2:c.128+9G>T | NP_001258652.1:n.128+9G>T |