Linked Data
dbSNP Id:
rs137852871
ExAC:
19:41928548 G / C
gnomAD v2:
19-41928548-G-C
gnomAD v4:
19-41422643-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422643G>C , CM000681.2:g.41422643G>C | GRCh38 |
| NC_000019.9:g.41928548G>C , CM000681.1:g.41928548G>C | GRCh37 |
| NC_000019.8:g.46620388G>C | NCBI36 |
| NG_013004.1:g.29855G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.868G>C MANE Select | ENSP00000269980.2:p.Gly290Arg | |
| ENST00000269980.6:c.868G>C | ENSP00000269980.2:p.Gly290Arg | |
| ENST00000457836.6:c.802G>C | ENSP00000416000.2:p.Gly268Arg | |
| ENST00000535632.5:n.497G>C | ||
| ENST00000540732.3:c.970G>C | ENSP00000443246.1:p.Gly324Arg | |
| ENST00000542943.5:c.781G>C | ENSP00000440345.1:p.Gly261Arg | |
| ENST00000545787.1:n.496G>C | ||
| ENST00000595085.5:c.868G>C | ENSP00000471150.2:p.Gly290Arg | |
| NM_000709.3:c.868G>C | NP_000700.1:p.Gly290Arg | |
| NM_001164783.1:c.865G>C | NP_001158255.1:p.Gly289Arg | |
| NM_000709.4:c.868G>C MANE Select | NP_000700.1:p.Gly290Arg | |
| NM_001164783.2:c.865G>C | NP_001158255.1:p.Gly289Arg |