Linked Data
ClinVar Variation Id:
64570
ClinVar RCV Id:
RCV000054757
dbSNP Id:
rs387907541
gnomAD v3:
7-142908736-C-T
gnomAD v4:
7-142908736-C-T
MyVariant Identifiers:
chr7:g.142908736C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142908736C>T , CM000669.2:g.142908736C>T | GRCh38 |
| NC_000007.12:g.142316024C>T | NCBI36 |
| NG_046912.1:g.29988G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265310.6:c.1968G>A MANE Select | ENSP00000265310.1:p.Lys656= | |
| ENST00000265310.5:c.1968G>A | ENSP00000265310.1:p.Lys656= | |
| ENST00000439304.5:c.1803G>A | ENSP00000406361.1:p.Lys601= | |
| NM_019841.6:c.1968G>A | NP_062815.3:p.Lys656= | |
| NM_019841.7:c.1968G>A MANE Select | NP_062815.3:p.Lys656= |