Linked Data
dbSNP Id:
rs2279344
gnomAD v2:
19-41515483-G-A
gnomAD v3:
19-41009578-G-A
gnomAD v4:
19-41009578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41009578G>A , CM000681.2:g.41009578G>A | GRCh38 |
| NC_000019.9:g.41515483G>A , CM000681.1:g.41515483G>A | GRCh37 |
| NC_000019.8:g.46207323G>A | NCBI36 |
| NG_007929.1:g.23280G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324071.10:c.822+183G>A MANE Select | ENSP00000324648.2:n.822+183G>A | |
| ENST00000598834.2:c.846+183G>A | ||
| ENST00000324071.8:c.822+183G>A | ENSP00000324648.2:n.822+183G>A | |
| ENST00000593831.1:c.257-2720G>A | ENSP00000470582.1:n.257-2720G>A | |
| NM_000767.4:c.822+183G>A | NP_000758.1:n.822+183G>A | |
| XM_005258569.3:c.822+183G>A | XP_005258626.1:n.822+183G>A | |
| XM_006723050.2:c.822+183G>A | XP_006723113.1:n.822+183G>A | |
| XM_011526546.1:c.822+183G>A | XP_011524848.1:n.822+183G>A | |
| XM_011526547.1:c.822+183G>A | XP_011524849.1:n.822+183G>A | |
| XM_011526548.1:c.485-2720G>A | XP_011524850.1:n.485-2720G>A | |
| XM_011526549.1:c.231+183G>A | XP_011524851.1:n.231+183G>A | |
| XM_011526550.1:c.365-2720G>A | XP_011524852.1:n.365-2720G>A | |
| NM_000767.5:c.822+183G>A MANE Select | NP_000758.1:n.822+183G>A |