Linked Data
dbSNP Id:
rs774741858
ExAC:
12:14659912 T / G
gnomAD v2:
12-14659912-T-G
gnomAD v3:
12-14506978-T-G
gnomAD v4:
12-14506978-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14506978T>G , CM000674.2:g.14506978T>G | GRCh38 |
| NC_000012.11:g.14659912T>G , CM000674.1:g.14659912T>G | GRCh37 |
| NC_000012.10:g.14551179T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1327A>C MANE Select | ENSP00000240617.5:p.Lys443Gln | |
| ENST00000240617.9:c.1327A>C | ENSP00000240617.5:p.Lys443Gln | |
| NM_024829.5:c.1327A>C | NP_079105.4:p.Lys443Gln | |
| NM_024829.6:c.1327A>C MANE Select | NP_079105.4:p.Lys443Gln |