Linked Data
dbSNP Id:
rs145288541
ExAC:
10:120810177 T / G
gnomAD v2:
10-120810177-T-G
gnomAD v3:
10-119050665-T-G
gnomAD v4:
10-119050665-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119050665T>G , CM000672.2:g.119050665T>G | GRCh38 |
| NC_000010.10:g.120810177T>G , CM000672.1:g.120810177T>G | GRCh37 |
| NC_000010.9:g.120800167T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369144.8:c.2329A>C MANE Select | ENSP00000358140.3:p.Lys777Gln | |
| ENST00000369144.7:c.2329A>C | ENSP00000358140.3:p.Lys777Gln | |
| ENST00000541549.2:c.2329A>C | ENSP00000438178.2:p.Lys777Gln | |
| NM_003750.2:c.2329A>C | NP_003741.1:p.Lys777Gln | |
| NM_003750.3:c.2329A>C | NP_003741.1:p.Lys777Gln | |
| NM_003750.4:c.2329A>C MANE Select | NP_003741.1:p.Lys777Gln |