Linked Data
ClinVar Variation Id:
99663
dbSNP Id:
rs62636511
ExAC:
6:35467787 T / C
gnomAD v2:
6-35467787-T-C
gnomAD v4:
6-35500010-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500010T>C , CM000668.2:g.35500010T>C | GRCh38 |
| NC_000006.11:g.35467787T>C , CM000668.1:g.35467787T>C | GRCh37 |
| NC_000006.10:g.35575765T>C | NCBI36 |
| NG_009077.1:g.17861A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1466A>G MANE Select | ENSP00000229771.6:p.Lys489Arg | |
| ENST00000229771.10:c.1466A>G | ENSP00000229771.6:p.Lys489Arg | |
| ENST00000322263.8:c.1307A>G | ENSP00000319414.4:p.Lys436Arg | |
| ENST00000614066.4:c.1460A>G | ENSP00000477534.1:p.Lys487Arg | |
| NM_001289395.1:c.1307A>G | NP_001276324.1:p.Lys436Arg | |
| NM_003322.4:c.1466A>G | NP_003313.3:p.Lys489Arg | |
| NM_003322.5:c.1466A>G | NP_003313.3:p.Lys489Arg | |
| NM_003322.6:c.1466A>G MANE Select | NP_003313.3:p.Lys489Arg | |
| NM_001289395.2:c.1307A>G | NP_001276324.1:p.Lys436Arg |