Linked Data
gnomAD v3:
19-11200727-G-A
gnomAD v4:
19-11200727-G-A
MyVariant Identifiers:
chr19:g.11311403G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11200727G>A , CM000681.2:g.11200727G>A | GRCh38 |
| NC_000019.9:g.11311403G>A , CM000681.1:g.11311403G>A | GRCh37 |
| NC_000019.8:g.11172403G>A | NCBI36 |
| NG_031953.1:g.66766C>T | |
| NG_051186.1:g.1841C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.6033C>T | ENSP00000468638.2:p.Asp2011= | |
| ENST00000294618.12:c.5928C>T MANE Select | ENSP00000294618.6:p.Asp1976= | |
| ENST00000294618.11:c.5928C>T | ENSP00000294618.6:p.Asp1976= | |
| ENST00000586702.1:n.831C>T | ||
| ENST00000587656.5:c.3793C>T | ||
| ENST00000587734.1:c.75+1162C>T | ENSP00000468291.1:n.75+1162C>T | |
| NM_020812.3:c.5928C>T | NP_065863.2:p.Asp1976= | |
| XM_005260000.2:c.6126C>T | XP_005260057.1:p.Asp2042= | |
| XM_005260001.2:c.6033C>T | XP_005260058.1:p.Asp2011= | |
| XM_006722804.2:c.3264C>T | XP_006722867.1:p.Asp1088= | |
| XM_011528150.1:c.6066C>T | XP_011526452.1:p.Asp2022= | |
| XM_011528151.1:c.6054C>T | XP_011526453.1:p.Asp2018= | |
| XM_011528152.1:c.5961C>T | XP_011526454.1:p.Asp1987= | |
| XR_936195.1:n.6173C>T | ||
| XM_006722804.3:c.3264C>T | XP_006722867.1:p.Asp1088= | |
| NM_001367830.1:c.6033C>T | NP_001354759.1:p.Asp2011= | |
| NM_020812.4:c.5928C>T MANE Select | NP_065863.2:p.Asp1976= |