Linked Data
ClinVar Variation Id:
1214974
ClinVar RCV Id:
RCV001593449
dbSNP Id:
rs374944035
ExAC:
19:39201023 C / T
gnomAD v2:
19-39201023-C-T
gnomAD v3:
19-38710383-C-T
gnomAD v4:
19-38710383-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38710383C>T , CM000681.2:g.38710383C>T | GRCh38 |
| NC_000019.9:g.39201023C>T , CM000681.1:g.39201023C>T | GRCh37 |
| NC_000019.8:g.43892863C>T | NCBI36 |
| NG_007082.2:g.67697C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440400.3:c.734-893C>T | ENSP00000398393.2:n.734-893C>T | |
| ENST00000697712.1:c.678+41C>T | ENSP00000513410.1:n.678+41C>T | |
| ENST00000252699.7:c.819+41C>T MANE Select | ENSP00000252699.2:n.819+41C>T | |
| ENST00000424234.7:c.734-893C>T | ENSP00000411187.4:n.734-893C>T | |
| ENST00000440400.2:c.734-893C>T | ENSP00000398393.2:n.734-893C>T | |
| ENST00000252699.6:c.819+41C>T | ENSP00000252699.2:n.819+41C>T | |
| ENST00000390009.7:c.163-4086C>T | ENSP00000439497.1:n.163-4086C>T | |
| ENST00000424234.6:c.272+9674C>T | ENSP00000411187.3:n.272+9674C>T | |
| ENST00000586538.1:c.137-893C>T | ENSP00000465176.1:n.137-893C>T | |
| ENST00000588618.5:n.916+41C>T | ||
| ENST00000589528.1:c.285+9669C>T | ||
| NM_004924.4:c.819+41C>T | NP_004915.2:n.819+41C>T | |
| XM_005259281.3:c.819+41C>T | XP_005259338.1:n.819+41C>T | |
| XM_005259282.3:c.734-893C>T | XP_005259339.1:n.734-893C>T | |
| XM_006723406.1:c.734-893C>T | XP_006723469.1:n.734-893C>T | |
| NM_001322033.1:c.734-893C>T | NP_001308962.1:n.734-893C>T | |
| NM_004924.5:c.819+41C>T | NP_004915.2:n.819+41C>T | |
| XM_005259281.5:c.819+41C>T | XP_005259338.1:n.819+41C>T | |
| XM_006723406.3:c.734-893C>T | XP_006723469.1:n.734-893C>T | |
| XM_017027331.2:c.819+41C>T | XP_016882820.1:n.819+41C>T | |
| XR_001753937.1:n.123-8219G>A | ||
| NM_004924.6:c.819+41C>T MANE Select | NP_004915.2:n.819+41C>T | |
| NM_001322033.2:c.734-893C>T | NP_001308962.1:n.734-893C>T |