Linked Data
dbSNP Id:
rs769943258
ExAC:
19:46270268 C / G
gnomAD v2:
19-46270268-C-G
gnomAD v3:
19-45767010-C-G
gnomAD v4:
19-45767010-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45767010C>G , CM000681.2:g.45767010C>G | GRCh38 |
| NC_000019.9:g.46270268C>G , CM000681.1:g.46270268C>G | GRCh37 |
| NC_000019.8:g.50962108C>G | NCBI36 |
| NG_012745.1:g.7230G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.949G>C MANE Select | ENSP00000316842.4:p.Ala317Pro | |
| ENST00000317578.6:c.949G>C | ENSP00000316842.4:p.Ala317Pro | |
| ENST00000560160.1:c.587-899G>C | ||
| ENST00000560168.1:c.*137G>C | ENSP00000453189.2:n.*137G>C | |
| ENST00000622857.1:c.16-1048G>C | ENSP00000481365.1:n.16-1048G>C | |
| NM_175875.4:c.949G>C | NP_787071.2:p.Ala317Pro | |
| NM_175875.5:c.949G>C MANE Select | NP_787071.3:p.Ala317Pro |