Linked Data
dbSNP Id:
rs761445302
ExAC:
19:15651424 A / C
gnomAD v2:
19-15651424-A-C
gnomAD v4:
19-15540613-A-C
MyVariant Identifiers:
chr19:g.15651424A>C (hg19)
chr19:g.15651424_15651425delinsCT (hg19)
chr19:g.15540613A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15540613A>C , CM000681.2:g.15540613A>C | GRCh38 |
| NC_000019.9:g.15651424A>C , CM000681.1:g.15651424A>C | GRCh37 |
| NC_000019.8:g.15512424A>C | NCBI36 |
| NG_007987.1:g.37089A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269703.8:c.835A>C MANE Select | ENSP00000269703.1:p.Ile279Leu | |
| ENST00000269703.7:c.835A>C | ENSP00000269703.1:p.Ile279Leu | |
| ENST00000601005.2:c.835A>C | ENSP00000469866.1:p.Ile279Leu | |
| NM_173483.3:c.835A>C | NP_775754.2:p.Ile279Leu | |
| XM_011527692.1:c.835A>C | XP_011525994.1:p.Ile279Leu | |
| XM_011527693.1:c.835A>C | XP_011525995.1:p.Ile279Leu | |
| XM_011527692.2:c.835A>C | XP_011525994.1:p.Ile279Leu | |
| XM_011527693.2:c.835A>C | XP_011525995.1:p.Ile279Leu | |
| NM_173483.4:c.835A>C MANE Select | NP_775754.2:p.Ile279Leu |