Linked Data
dbSNP Id:
rs316019
ExAC:
6:160670282 A / C
gnomAD v2:
6-160670282-A-C
gnomAD v3:
6-160249250-A-C
gnomAD v4:
6-160249250-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160249250A>C , CM000668.2:g.160249250A>C | GRCh38 |
| NC_000006.11:g.160670282A>C , CM000668.1:g.160670282A>C | GRCh37 |
| NC_000006.10:g.160590272A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366953.8:c.808T>G MANE Select | ENSP00000355920.3:p.Ser270Ala | |
| ENST00000366952.1:c.745T>G | ENSP00000355919.1:p.Ser249Ala | |
| ENST00000366953.7:c.808T>G | ENSP00000355920.3:p.Ser270Ala | |
| ENST00000491092.1:n.705T>G | ||
| NM_003058.3:c.808T>G | NP_003049.2:p.Ser270Ala | |
| NM_003058.4:c.808T>G MANE Select | NP_003049.2:p.Ser270Ala |