Linked Data
dbSNP Id:
rs529227957
ExAC:
19:11533517 G / C
gnomAD v2:
19-11533517-G-C
gnomAD v4:
19-11422849-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11422849G>C , CM000681.2:g.11422849G>C | GRCh38 |
| NC_000019.9:g.11533517G>C , CM000681.1:g.11533517G>C | GRCh37 |
| NC_000019.8:g.11394517G>C | NCBI36 |
| NG_041777.1:g.17934C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356392.9:c.1129C>G MANE Select | ENSP00000348757.3:p.Arg377Gly | |
| ENST00000356392.8:c.1129C>G | ENSP00000348757.3:p.Arg377Gly | |
| ENST00000586836.5:c.556C>G | ENSP00000467429.1:p.Arg186Gly | |
| ENST00000591179.5:c.949C>G | ENSP00000466800.1:p.Arg317Gly | |
| ENST00000591345.5:c.*1048C>G | ENSP00000467313.1:n.*1048C>G | |
| NM_001302453.1:c.967C>G | NP_001289382.1:p.Arg323Gly | |
| NM_001302454.1:c.949C>G | NP_001289383.1:p.Arg317Gly | |
| NM_145045.4:c.1129C>G | NP_659482.3:p.Arg377Gly | |
| XM_017026241.1:c.*23C>G | XP_016881730.1:n.*23C>G | |
| NM_145045.5:c.1129C>G MANE Select | NP_659482.3:p.Arg377Gly | |
| NM_001302454.2:c.949C>G | NP_001289383.1:p.Arg317Gly |