Linked Data
dbSNP Id:
rs374876080
gnomAD v2:
19-39198700-C-T
gnomAD v3:
19-38708060-C-T
gnomAD v4:
19-38708060-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38708060C>T , CM000681.2:g.38708060C>T | GRCh38 |
| NC_000019.9:g.39198700C>T , CM000681.1:g.39198700C>T | GRCh37 |
| NC_000019.8:g.43890540C>T | NCBI36 |
| NG_007082.2:g.65374C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440400.3:c.573-57C>T | ENSP00000398393.2:n.573-57C>T | |
| ENST00000697712.1:c.432-57C>T | ENSP00000513410.1:n.432-57C>T | |
| ENST00000252699.7:c.573-57C>T MANE Select | ENSP00000252699.2:n.573-57C>T | |
| ENST00000424234.7:c.573-57C>T | ENSP00000411187.4:n.573-57C>T | |
| ENST00000440400.2:c.573-57C>T | ENSP00000398393.2:n.573-57C>T | |
| ENST00000252699.6:c.573-57C>T | ENSP00000252699.2:n.573-57C>T | |
| ENST00000390009.7:c.163-6409C>T | ENSP00000439497.1:n.163-6409C>T | |
| ENST00000424234.6:c.272+7351C>T | ENSP00000411187.3:n.272+7351C>T | |
| ENST00000495553.1:n.479-57C>T | ||
| ENST00000588618.5:n.670-57C>T | ||
| ENST00000589528.1:c.285+7346C>T | ||
| NM_004924.4:c.573-57C>T | NP_004915.2:n.573-57C>T | |
| XM_005259281.3:c.573-57C>T | XP_005259338.1:n.573-57C>T | |
| XM_005259282.3:c.573-57C>T | XP_005259339.1:n.573-57C>T | |
| XM_006723406.1:c.573-57C>T | XP_006723469.1:n.573-57C>T | |
| NM_001322033.1:c.573-57C>T | NP_001308962.1:n.573-57C>T | |
| NM_004924.5:c.573-57C>T | NP_004915.2:n.573-57C>T | |
| XM_005259281.5:c.573-57C>T | XP_005259338.1:n.573-57C>T | |
| XM_006723406.3:c.573-57C>T | XP_006723469.1:n.573-57C>T | |
| XM_017027331.2:c.573-57C>T | XP_016882820.1:n.573-57C>T | |
| XR_001753937.1:n.123-5896G>A | ||
| NM_004924.6:c.573-57C>T MANE Select | NP_004915.2:n.573-57C>T | |
| NM_001322033.2:c.573-57C>T | NP_001308962.1:n.573-57C>T |