Linked Data
ClinVar Variation Id:
381510
ClinVar RCV Id:
RCV000435851
RCV002062428
RCV003445993
RCV003445989
RCV003445990
RCV003445991
RCV003445992
dbSNP Id:
rs970369883
gnomAD v2:
1-43424291-G-A
gnomAD v3:
1-42958620-G-A
gnomAD v4:
1-42958620-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42958620G>A , CM000663.2:g.42958620G>A | GRCh38 |
| NC_000001.10:g.43424291G>A , CM000663.1:g.43424291G>A | GRCh37 |
| NC_000001.9:g.43196878G>A | NCBI36 |
| NG_008232.1:g.5557C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.18+14C>T MANE Select | ENSP00000416293.2:n.18+14C>T | |
| ENST00000460369.3:c.18+14C>T | ENSP00000491942.1:n.18+14C>T | |
| ENST00000674765.1:c.18+14C>T | ENSP00000501811.1:n.18+14C>T | |
| ENST00000675112.1:n.41+14C>T | ||
| ENST00000676097.1:n.260+14C>T | ||
| ENST00000372500.4:c.18+14C>T | ENSP00000361578.4:n.18+14C>T | |
| ENST00000415851.6:n.235+14C>T | ||
| ENST00000426263.7:c.18+14C>T | ENSP00000416293.2:n.18+14C>T | |
| ENST00000460369.2:n.226+14C>T | ||
| ENST00000625233.2:n.226+14C>T | ||
| ENST00000628173.1:n.237+14C>T | ||
| ENST00000630287.2:c.18+14C>T | ENSP00000486694.1:n.18+14C>T | |
| ENST00000630821.1:n.235+14C>T | ||
| NM_006516.2:c.18+14C>T | NP_006507.2:n.18+14C>T | |
| NM_006516.3:c.18+14C>T | NP_006507.2:n.18+14C>T | |
| NM_006516.4:c.18+14C>T MANE Select | NP_006507.2:n.18+14C>T |