Linked Data
ClinVar Variation Id:
717661
ClinVar RCV Id:
RCV000890488
dbSNP Id:
rs199988613
ExAC:
14:53173934 C / T
gnomAD v2:
14-53173934-C-T
gnomAD v3:
14-52707216-C-T
gnomAD v4:
14-52707216-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.52707216C>T , CM000676.2:g.52707216C>T | GRCh38 |
| NC_000014.8:g.53173934C>T , CM000676.1:g.53173934C>T | GRCh37 |
| NC_000014.7:g.52243684C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445930.7:c.-4C>T MANE Select | ENSP00000401802.3:n.-4C>T | |
| ENST00000445930.6:c.39C>T | ENSP00000401802.2:p.Leu13= | |
| ENST00000458604.6:n.33C>T | ||
| ENST00000553899.5:c.-4C>T | ENSP00000452511.2:n.-4C>T | |
| ENST00000554044.5:c.-4C>T | ENSP00000451340.2:n.-4C>T | |
| ENST00000554952.5:n.15C>T | ||
| ENST00000554956.5:n.16C>T | ||
| ENST00000555887.5:n.39C>T | ||
| ENST00000557240.5:c.-4C>T | ENSP00000452072.2:n.-4C>T | |
| ENST00000606149.5:c.-4C>T | ENSP00000475721.1:n.-4C>T | |
| ENST00000612399.4:c.39C>T | ENSP00000484998.1:p.Leu13= | |
| NM_002806.3:c.39C>T | NP_002797.3:p.Leu13= | |
| XR_245706.2:n.54C>T | ||
| XR_943495.1:n.54C>T | ||
| NM_001366414.1:c.-1833C>T | NP_001353343.1:n.-1833C>T | |
| NM_002806.4:c.-4C>T | NP_002797.4:n.-4C>T | |
| NR_158967.1:n.17C>T | ||
| NM_002806.5:c.-4C>T MANE Select | NP_002797.4:n.-4C>T | |
| NM_001366414.2:c.-1833C>T | NP_001353343.1:n.-1833C>T | |
| NR_158967.2:n.17C>T |