Linked Data
dbSNP Id:
rs749876943
ExAC:
19:41930478 G / C
gnomAD v2:
19-41930478-G-C
gnomAD v3:
19-41424573-G-C
gnomAD v4:
19-41424573-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424573G>C , CM000681.2:g.41424573G>C | GRCh38 |
| NC_000019.9:g.41930478G>C , CM000681.1:g.41930478G>C | GRCh37 |
| NC_000019.8:g.46622318G>C | NCBI36 |
| NG_013004.1:g.31785G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1303G>C MANE Select | ENSP00000269980.2:p.Gly435Arg | |
| ENST00000269980.6:c.1303G>C | ENSP00000269980.2:p.Gly435Arg | |
| ENST00000457836.6:c.1312G>C | ENSP00000416000.2:p.Gly438Arg | |
| ENST00000540732.3:c.1405G>C | ENSP00000443246.1:p.Gly469Arg | |
| ENST00000544905.1:c.133G>C | ||
| ENST00000595085.5:c.922+1876G>C | ENSP00000471150.2:n.922+1876G>C | |
| NM_000709.3:c.1303G>C | NP_000700.1:p.Gly435Arg | |
| NM_001164783.1:c.1300G>C | NP_001158255.1:p.Gly434Arg | |
| NM_000709.4:c.1303G>C MANE Select | NP_000700.1:p.Gly435Arg | |
| NM_001164783.2:c.1300G>C | NP_001158255.1:p.Gly434Arg |