Linked Data
dbSNP Id:
rs4803419
ExAC:
19:41512792 C / T
gnomAD v2:
19-41512792-C-T
gnomAD v3:
19-41006887-C-T
gnomAD v4:
19-41006887-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41006887C>T , CM000681.2:g.41006887C>T | GRCh38 |
| NC_000019.9:g.41512792C>T , CM000681.1:g.41512792C>T | GRCh37 |
| NC_000019.8:g.46204632C>T | NCBI36 |
| NG_007929.1:g.20589C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324071.10:c.485-18C>T MANE Select | ENSP00000324648.2:n.485-18C>T | |
| ENST00000598834.2:c.387-18C>T | ||
| ENST00000324071.8:c.485-18C>T | ENSP00000324648.2:n.485-18C>T | |
| ENST00000593831.1:c.256+2441C>T | ENSP00000470582.1:n.256+2441C>T | |
| ENST00000594187.1:n.69-18C>T | ||
| ENST00000598834.1:n.387-18C>T | ||
| NM_000767.4:c.485-18C>T | NP_000758.1:n.485-18C>T | |
| XM_005258569.3:c.485-18C>T | XP_005258626.1:n.485-18C>T | |
| XM_006723050.2:c.485-18C>T | XP_006723113.1:n.485-18C>T | |
| XM_011526546.1:c.485-18C>T | XP_011524848.1:n.485-18C>T | |
| XM_011526547.1:c.485-18C>T | XP_011524849.1:n.485-18C>T | |
| XM_011526548.1:c.484+2441C>T | XP_011524850.1:n.484+2441C>T | |
| XM_011526549.1:c.-75-50C>T | XP_011524851.1:n.-75-50C>T | |
| XM_011526550.1:c.364+2441C>T | XP_011524852.1:n.364+2441C>T | |
| NM_000767.5:c.485-18C>T MANE Select | NP_000758.1:n.485-18C>T |