Linked Data
dbSNP Id:
rs768843191
ExAC:
1:94487452 C / G
gnomAD v2:
1-94487452-C-G
gnomAD v4:
1-94021896-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021896C>G , CM000663.2:g.94021896C>G | GRCh38 |
| NC_000001.10:g.94487452C>G , CM000663.1:g.94487452C>G | GRCh37 |
| NC_000001.9:g.94260040C>G | NCBI36 |
| NG_009073.1:g.104254G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4723G>C MANE Select | ENSP00000359245.3:p.Ala1575Pro | |
| ENST00000370225.3:c.4723G>C | ENSP00000359245.3:p.Ala1575Pro | |
| ENST00000460514.1:n.217G>C | ||
| ENST00000536513.5:c.1099G>C | ENSP00000439707.2:p.Ala367Pro | |
| NM_000350.2:c.4723G>C | NP_000341.2:p.Ala1575Pro | |
| NM_000350.3:c.4723G>C MANE Select | NP_000341.2:p.Ala1575Pro |