Linked Data
ClinVar Variation Id:
593738
ClinVar RCV Id:
RCV000728865
dbSNP Id:
rs183923599
ExAC:
10:101595971 C / T
gnomAD v2:
10-101595971-C-T
gnomAD v3:
10-99836214-C-T
gnomAD v4:
10-99836214-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836214C>T , CM000672.2:g.99836214C>T | GRCh38 |
| NC_000010.10:g.101595971C>T , CM000672.1:g.101595971C>T | GRCh37 |
| NC_000010.9:g.101585961C>T | NCBI36 |
| NG_011798.1:g.58509C>T | |
| NG_011798.2:g.58617C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3538C>T MANE Select | ENSP00000497274.1:p.Gln1180Ter | |
| ENST00000370449.8:c.3538C>T | ENSP00000359478.4:p.Gln1180Ter | |
| NM_000392.4:c.3538C>T | NP_000383.1:p.Gln1180Ter | |
| XM_006717630.2:c.2842C>T | XP_006717693.1:p.Gln948Ter | |
| XR_945604.1:n.3727C>T | ||
| XR_945605.1:n.3729C>T | ||
| NM_000392.5:c.3538C>T MANE Select | NP_000383.2:p.Gln1180Ter | |
| XM_006717630.3:c.2842C>T | XP_006717693.1:p.Gln948Ter | |
| XR_945604.3:n.3781C>T | ||
| XR_945605.3:n.3781C>T |