Linked Data
dbSNP Id:
rs529295373
ExAC:
19:46307514 G / C
gnomAD v2:
19-46307514-G-C
gnomAD v3:
19-45804256-G-C
gnomAD v4:
19-45804256-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45804256G>C , CM000681.2:g.45804256G>C | GRCh38 |
| NC_000019.9:g.46307514G>C , CM000681.1:g.46307514G>C | GRCh37 |
| NC_000019.8:g.50999354G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221538.8:c.1649C>G MANE Select | ENSP00000221538.2:p.Pro550Arg | |
| ENST00000221538.7:c.1649C>G | ENSP00000221538.2:p.Pro550Arg | |
| ENST00000597055.1:c.1649C>G | ENSP00000472630.1:p.Pro550Arg | |
| ENST00000600188.5:c.857C>G | ENSP00000471559.1:p.Pro286Arg | |
| NM_030785.3:c.1649C>G | NP_110412.1:p.Pro550Arg | |
| XM_011527351.1:c.1649C>G | XP_011525653.1:p.Pro550Arg | |
| XM_011527351.2:c.1649C>G | XP_011525653.1:p.Pro550Arg | |
| NM_030785.4:c.1649C>G MANE Select | NP_110412.1:p.Pro550Arg |