Linked Data
ClinVar Variation Id:
164351
ClinVar RCV Id:
RCV000811264
dbSNP Id:
rs727503264
ERepo:
CA011527/MONDO:0005045/002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23426852T>G , CM000676.2:g.23426852T>G | GRCh38 |
| NC_000014.8:g.23896061T>G , CM000676.1:g.23896061T>G | GRCh37 |
| NC_000014.7:g.22965901T>G | NCBI36 |
| NG_007884.1:g.13810A>C , LRG_384:g.13810A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.1969A>C MANE Select | ENSP00000347507.3:p.Lys657Gln | |
| ENST00000355349.3:c.1969A>C | ENSP00000347507.3:p.Lys657Gln | |
| NM_000257.3:c.1969A>C | NP_000248.2:p.Lys657Gln | |
| XR_245686.3:n.2075A>C | ||
| XM_017021340.1:c.1969A>C | XP_016876829.1:p.Lys657Gln | |
| NM_000257.4:c.1969A>C MANE Select | NP_000248.2:p.Lys657Gln |