Linked Data
dbSNP Id:
rs148830499
ExAC:
5:145719222 G / C
gnomAD v2:
5-145719222-G-C
gnomAD v4:
5-146339659-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339659G>C , CM000667.2:g.146339659G>C | GRCh38 |
| NC_000005.9:g.145719222G>C , CM000667.1:g.145719222G>C | GRCh37 |
| NC_000005.8:g.145699415G>C | NCBI36 |
| NG_011885.1:g.5636G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.232G>C MANE Select | ENSP00000495718.1:p.Ala78Pro | |
| ENST00000230732.4:c.232G>C | ENSP00000230732.4:p.Ala78Pro | |
| NM_002700.2:c.232G>C | NP_002691.1:p.Ala78Pro | |
| NM_002700.3:c.232G>C MANE Select | NP_002691.1:p.Ala78Pro |