Linked Data
dbSNP Id:
rs746216610
ExAC:
19:46270085 T / G
gnomAD v2:
19-46270085-T-G
gnomAD v4:
19-45766827-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766827T>G , CM000681.2:g.45766827T>G | GRCh38 |
| NC_000019.9:g.46270085T>G , CM000681.1:g.46270085T>G | GRCh37 |
| NC_000019.8:g.50961925T>G | NCBI36 |
| NG_012745.1:g.7413A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1132A>C MANE Select | ENSP00000316842.4:p.Ser378Arg | |
| ENST00000317578.6:c.1132A>C | ENSP00000316842.4:p.Ser378Arg | |
| ENST00000560160.1:c.587-716A>C | ||
| ENST00000560168.1:c.*320A>C | ENSP00000453189.2:n.*320A>C | |
| ENST00000622857.1:c.16-865A>C | ENSP00000481365.1:n.16-865A>C | |
| NM_175875.4:c.1132A>C | NP_787071.2:p.Ser378Arg | |
| NM_175875.5:c.1132A>C MANE Select | NP_787071.3:p.Ser378Arg |