Linked Data
ClinVar Variation Id:
371423
ClinVar RCV Id:
RCV000410192
dbSNP Id:
rs1057517259
gnomAD v4:
9-130471484-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130471484G>T , CM000671.2:g.130471484G>T | GRCh38 |
| NC_000009.11:g.133346871G>T , CM000671.1:g.133346871G>T | GRCh37 |
| NC_000009.10:g.132336692G>T | NCBI36 |
| NG_011542.1:g.31778G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352480.10:c.567-1G>T MANE Select | ENSP00000253004.6:n.567-1G>T | |
| ENST00000352480.9:c.567-1G>T | ENSP00000253004.6:n.567-1G>T | |
| ENST00000372393.7:c.567-1G>T | ENSP00000361469.2:n.567-1G>T | |
| ENST00000372394.5:c.567-1G>T | ENSP00000361471.1:n.567-1G>T | |
| ENST00000422569.5:c.567-1G>T | ENSP00000394212.1:n.567-1G>T | |
| ENST00000443588.1:c.510-1G>T | ENSP00000397785.1:n.510-1G>T | |
| ENST00000467695.5:n.276-1G>T | ||
| ENST00000493984.6:n.398-1G>T | ||
| NM_000050.4:c.567-1G>T | NP_000041.2:n.567-1G>T | |
| NM_054012.3:c.567-1G>T | NP_446464.1:n.567-1G>T | |
| XM_005272200.2:c.567-1G>T | XP_005272257.1:n.567-1G>T | |
| XM_011518705.1:c.681-1G>T | XP_011517007.1:n.681-1G>T | |
| XM_005272200.3:c.567-1G>T | XP_005272257.1:n.567-1G>T | |
| XM_011518705.2:c.681-1G>T | XP_011517007.1:n.681-1G>T | |
| XM_017014729.1:c.663-1G>T | XP_016870218.1:n.663-1G>T | |
| NM_054012.4:c.567-1G>T MANE Select | NP_446464.1:n.567-1G>T |