Linked Data
ClinVar Variation Id:
196101
dbSNP Id:
rs3740066
ExAC:
10:101604207 C / T
gnomAD v2:
10-101604207-C-T
gnomAD v3:
10-99844450-C-T
gnomAD v4:
10-99844450-C-T
PubMed:
PMID:17997497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99844450C>T , CM000672.2:g.99844450C>T | GRCh38 |
| NC_000010.10:g.101604207C>T , CM000672.1:g.101604207C>T | GRCh37 |
| NC_000010.9:g.101594197C>T | NCBI36 |
| NG_011798.1:g.66745C>T | |
| NG_011798.2:g.66853C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.3972C>T MANE Select | ENSP00000497274.1:p.Ile1324= | |
| ENST00000649459.1:n.320C>T | ||
| ENST00000370449.8:c.3972C>T | ENSP00000359478.4:p.Ile1324= | |
| NM_000392.4:c.3972C>T | NP_000383.1:p.Ile1324= | |
| XM_006717630.2:c.3276C>T | XP_006717693.1:p.Ile1092= | |
| XR_945604.1:n.4161C>T | ||
| XR_945605.1:n.4036C>T | ||
| NM_000392.5:c.3972C>T MANE Select | NP_000383.2:p.Ile1324= | |
| XM_006717630.3:c.3276C>T | XP_006717693.1:p.Ile1092= | |
| XR_945604.3:n.4215C>T | ||
| XR_945605.3:n.4088C>T |