Linked Data
ClinVar Variation Id:
55806
ClinVar RCV Id:
RCV001388579
dbSNP Id:
rs587776988
gnomAD v4:
16-88715804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88715804C>T , CM000678.2:g.88715804C>T | GRCh38 |
| NC_000016.9:g.88782212C>T , CM000678.1:g.88782212C>T | GRCh37 |
| NC_000016.8:g.87309713C>T | NCBI36 |
| NG_042229.1:g.74417G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301015.14:c.7367G>A MANE Select | ENSP00000301015.9:p.Arg2456His | |
| ENST00000484567.6:n.2426G>A | ||
| ENST00000518793.6:c.199G>A | ||
| ENST00000301015.13:c.7367G>A | ENSP00000301015.9:p.Arg2456His | |
| ENST00000327397.8:c.933G>A | ENSP00000333704.7:p.Ala311= | |
| ENST00000419505.5:c.1174G>A | ENSP00000406358.1:n.1174G>A | |
| ENST00000484567.5:n.2003G>A | ||
| ENST00000518793.5:c.199G>A | ||
| ENST00000521877.1:n.331G>A | ||
| NM_001142864.2:c.7367G>A | NP_001136336.2:p.Arg2456His | |
| NM_001142864.3:c.7367G>A | NP_001136336.2:p.Arg2456His | |
| NM_001142864.4:c.7367G>A MANE Select | NP_001136336.2:p.Arg2456His |