Linked Data
dbSNP Id:
rs543773390
ExAC:
19:45296724 C / T
gnomAD v2:
19-45296724-C-T
gnomAD v3:
19-44793467-C-T
gnomAD v4:
19-44793467-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44793467C>T , CM000681.2:g.44793467C>T | GRCh38 |
| NC_000019.9:g.45296724C>T , CM000681.1:g.45296724C>T | GRCh37 |
| NC_000019.8:g.49988564C>T | NCBI36 |
| NG_054718.1:g.20613C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647358.2:c.1138-7C>T MANE Select | ENSP00000494162.1:n.1138-7C>T | |
| ENST00000270279.7:c.1138-7C>T | ENSP00000270279.3:n.1138-7C>T | |
| ENST00000341505.4:c.1000-7C>T | ENSP00000340250.4:n.1000-7C>T | |
| NM_001130852.1:c.1000-7C>T | NP_001124324.1:n.1000-7C>T | |
| NM_012116.3:c.1138-7C>T | NP_036248.3:n.1138-7C>T | |
| XM_005258696.2:c.1138-7C>T | XP_005258753.1:n.1138-7C>T | |
| XM_011526688.1:c.1138-7C>T | XP_011524990.1:n.1138-7C>T | |
| XM_011526689.1:c.1000-7C>T | XP_011524991.1:n.1000-7C>T | |
| XR_935783.1:n.1085-7C>T | ||
| NM_012116.4:c.1138-7C>T MANE Select | NP_036248.3:n.1138-7C>T | |
| XM_005258696.3:c.1138-7C>T | XP_005258753.1:n.1138-7C>T | |
| XM_011526688.2:c.1138-7C>T | XP_011524990.1:n.1138-7C>T | |
| XM_011526689.2:c.1000-7C>T | XP_011524991.1:n.1000-7C>T | |
| XR_935783.2:n.1090-7C>T |