Linked Data
ClinVar Variation Id:
1133562
ClinVar RCV Id:
RCV001468190
dbSNP Id:
rs1289765250
gnomAD v4:
7-92517867-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517867C>T , CM000669.2:g.92517867C>T | GRCh38 |
| NC_000007.13:g.92147181C>T , CM000669.1:g.92147181C>T | GRCh37 |
| NC_000007.12:g.91985117C>T | NCBI36 |
| NG_008341.1:g.15665G>A | |
| NG_008341.2:g.15665G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.648G>A MANE Select | ENSP00000248633.4:p.Lys216= | |
| ENST00000248633.8:c.648G>A | ENSP00000248633.4:p.Lys216= | |
| ENST00000428214.5:c.648G>A | ENSP00000394413.1:p.Lys216= | |
| ENST00000438045.5:c.274-3900G>A | ENSP00000410438.1:n.274-3900G>A | |
| ENST00000484913.5:n.687G>A | ||
| NM_000466.2:c.648G>A | NP_000457.1:p.Lys216= | |
| NM_001282677.1:c.648G>A | NP_001269606.1:p.Lys216= | |
| NM_001282678.1:c.24G>A | NP_001269607.1:p.Lys8= | |
| XR_242246.3:n.744G>A | ||
| XR_242246.5:n.695G>A | ||
| NM_000466.3:c.648G>A MANE Select | NP_000457.1:p.Lys216= | |
| NM_001282677.2:c.648G>A | NP_001269606.1:p.Lys216= | |
| NM_001282678.2:c.24G>A | NP_001269607.1:p.Lys8= |