Linked Data
ClinVar Variation Id:
1447855
ClinVar RCV Id:
RCV002012001
RCV002265051
RCV003446970
RCV003446969
RCV003446971
RCV003446972
RCV003446968
dbSNP Id:
rs2124446216
gnomAD v4:
1-42927623-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927623C>T , CM000663.2:g.42927623C>T | GRCh38 |
| NC_000001.10:g.43393294C>T , CM000663.1:g.43393294C>T | GRCh37 |
| NC_000001.9:g.43165881C>T | NCBI36 |
| NG_008232.1:g.36554G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1260G>A MANE Select | ENSP00000416293.2:p.Met420Ile | |
| ENST00000674545.1:n.1877G>A | ||
| ENST00000674765.1:c.1030-766G>A | ENSP00000501811.1:n.1030-766G>A | |
| ENST00000675112.1:n.1561G>A | ||
| ENST00000676254.1:n.1709G>A | ||
| ENST00000426263.7:c.1260G>A | ENSP00000416293.2:p.Met420Ile | |
| ENST00000475162.3:c.416-645G>A | ||
| ENST00000630287.2:c.*575G>A | ENSP00000486694.1:n.*575G>A | |
| NM_006516.2:c.1260G>A | NP_006507.2:p.Met420Ile | |
| NM_006516.3:c.1260G>A | NP_006507.2:p.Met420Ile | |
| NM_006516.4:c.1260G>A MANE Select | NP_006507.2:p.Met420Ile |