Linked Data
ClinVar Variation Id:
784388
ClinVar RCV Id:
RCV000966065
dbSNP Id:
rs74815302
ExAC:
19:13051549 C / T
gnomAD v2:
19-13051549-C-T
gnomAD v3:
19-12940735-C-T
gnomAD v4:
19-12940735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12940735C>T , CM000681.2:g.12940735C>T | GRCh38 |
| NC_000019.9:g.13051549C>T , CM000681.1:g.13051549C>T | GRCh37 |
| NC_000019.8:g.12912549C>T | NCBI36 |
| NG_029662.1:g.7136C>T , LRG_828:g.7136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316448.10:c.817-9C>T MANE Select | ENSP00000320866.4:n.817-9C>T | |
| ENST00000586760.2:c.817-9C>T | ENSP00000465918.2:n.817-9C>T | |
| ENST00000586967.2:c.817-9C>T | ENSP00000466037.2:n.817-9C>T | |
| ENST00000588454.6:c.613-9C>T | ENSP00000465105.2:n.613-9C>T | |
| ENST00000680816.1:c.817-9C>T | ENSP00000504963.1:n.817-9C>T | |
| ENST00000316448.9:c.817-9C>T | ENSP00000320866.4:n.817-9C>T | |
| ENST00000586760.1:c.171-9C>T | ||
| ENST00000588454.5:c.613-9C>T | ENSP00000465105.1:n.613-9C>T | |
| NM_004343.3:c.817-9C>T , LRG_828t1:c.817-9C>T | NP_004334.1:n.817-9C>T | |
| NM_004343.4:c.817-9C>T MANE Select | NP_004334.1:n.817-9C>T |