Linked Data
dbSNP Id:
rs2279008
ExAC:
19:17283303 T / C
gnomAD v2:
19-17283303-T-C
gnomAD v3:
19-17172493-T-C
gnomAD v4:
19-17172493-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17172493T>C , CM000681.2:g.17172493T>C | GRCh38 |
| NC_000019.9:g.17283303T>C , CM000681.1:g.17283303T>C | GRCh37 |
| NC_000019.8:g.17144303T>C | NCBI36 |
| NG_013068.1:g.101713T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682292.1:c.1935+16T>C MANE Select | ENSP00000507803.1:n.1935+16T>C | |
| ENST00000397274.6:c.1935+16T>C | ENSP00000380444.2:n.1935+16T>C | |
| ENST00000594824.5:c.1935+16T>C | ENSP00000471367.1:n.1935+16T>C | |
| ENST00000594971.5:c.103+16T>C | ||
| ENST00000595618.5:c.1935+16T>C | ENSP00000471457.1:n.1935+16T>C | |
| ENST00000595641.5:c.1935+16T>C | ENSP00000472915.1:n.1935+16T>C | |
| NM_001130065.1:c.1935+16T>C | NP_001123537.1:n.1935+16T>C | |
| NM_004145.3:c.1935+16T>C | NP_004136.2:n.1935+16T>C | |
| XM_011528029.1:c.1935+16T>C | XP_011526331.1:n.1935+16T>C | |
| XM_011528030.1:c.1935+16T>C | XP_011526332.1:n.1935+16T>C | |
| XM_011528031.1:c.1935+16T>C | XP_011526333.1:n.1935+16T>C | |
| XM_011528032.1:c.1935+16T>C | XP_011526334.1:n.1935+16T>C | |
| XM_011528033.1:c.1935+16T>C | XP_011526335.1:n.1935+16T>C | |
| XM_011528034.1:c.1935+16T>C | XP_011526336.1:n.1935+16T>C | |
| XM_011528035.1:c.1935+16T>C | XP_011526337.1:n.1935+16T>C | |
| XM_011528036.1:c.1935+16T>C | XP_011526338.1:n.1935+16T>C | |
| XM_011528037.1:c.1935+16T>C | XP_011526339.1:n.1935+16T>C | |
| XM_011528038.1:c.1935+16T>C | XP_011526340.1:n.1935+16T>C | |
| XR_936183.1:n.2089+16T>C | ||
| XR_936184.1:n.2089+16T>C | ||
| XR_936185.1:n.2089+16T>C | ||
| NM_001130065.2:c.1935+16T>C | NP_001123537.1:n.1935+16T>C | |
| NM_004145.4:c.1935+16T>C MANE Select | NP_004136.2:n.1935+16T>C |