Linked Data
dbSNP Id:
rs756157252
ExAC:
19:11533264 G / C
gnomAD v2:
19-11533264-G-C
gnomAD v4:
19-11422596-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11422596G>C , CM000681.2:g.11422596G>C | GRCh38 |
| NC_000019.9:g.11533264G>C , CM000681.1:g.11533264G>C | GRCh37 |
| NC_000019.8:g.11394264G>C | NCBI36 |
| NG_041777.1:g.18187C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356392.9:c.1309C>G MANE Select | ENSP00000348757.3:p.Arg437Gly | |
| ENST00000356392.8:c.1309C>G | ENSP00000348757.3:p.Arg437Gly | |
| ENST00000586836.5:c.736C>G | ENSP00000467429.1:p.Arg246Gly | |
| ENST00000591179.5:c.1129C>G | ENSP00000466800.1:p.Arg377Gly | |
| ENST00000591345.5:c.*1228C>G | ENSP00000467313.1:n.*1228C>G | |
| NM_001302453.1:c.1147C>G | NP_001289382.1:p.Arg383Gly | |
| NM_001302454.1:c.1129C>G | NP_001289383.1:p.Arg377Gly | |
| NM_145045.4:c.1309C>G | NP_659482.3:p.Arg437Gly | |
| NM_145045.5:c.1309C>G MANE Select | NP_659482.3:p.Arg437Gly | |
| NM_001302454.2:c.1129C>G | NP_001289383.1:p.Arg377Gly |