Linked Data
dbSNP Id:
rs1227147431
gnomAD v2:
19-11342894-C-T
gnomAD v3:
19-11232218-C-T
gnomAD v4:
19-11232218-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11232218C>T , CM000681.2:g.11232218C>T | GRCh38 |
| NC_000019.9:g.11342894C>T , CM000681.1:g.11342894C>T | GRCh37 |
| NC_000019.8:g.11203894C>T | NCBI36 |
| NG_031953.1:g.35275G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.2790G>A | ENSP00000468638.2:p.Arg930= | |
| ENST00000294618.12:c.2718+985G>A MANE Select | ENSP00000294618.6:n.2718+985G>A | |
| ENST00000294618.11:c.2718+985G>A | ENSP00000294618.6:n.2718+985G>A | |
| ENST00000585904.1:c.393G>A | ENSP00000465767.1:p.Arg131= | |
| ENST00000587656.5:c.550G>A | ||
| ENST00000590680.5:c.1061+985G>A | ||
| NM_020812.3:c.2718+985G>A | NP_065863.2:n.2718+985G>A | |
| XM_005260000.2:c.2790G>A | XP_005260057.1:p.Arg930= | |
| XM_005260001.2:c.2790G>A | XP_005260058.1:p.Arg930= | |
| XM_006722804.2:c.54+821G>A | XP_006722867.1:n.54+821G>A | |
| XM_011528150.1:c.2823G>A | XP_011526452.1:p.Arg941= | |
| XM_011528151.1:c.2751+985G>A | XP_011526453.1:n.2751+985G>A | |
| XM_011528152.1:c.2751+985G>A | XP_011526454.1:n.2751+985G>A | |
| XM_011528153.1:c.2823G>A | XP_011526455.1:p.Arg941= | |
| XR_936195.1:n.2884G>A | ||
| XR_936196.1:n.2812+985G>A | ||
| XR_936197.1:n.2884G>A | ||
| XR_936198.1:n.2812+985G>A | ||
| XM_006722804.3:c.54+821G>A | XP_006722867.1:n.54+821G>A | |
| NM_001367830.1:c.2790G>A | NP_001354759.1:p.Arg930= | |
| NM_020812.4:c.2718+985G>A MANE Select | NP_065863.2:n.2718+985G>A |