Linked Data
ClinVar Variation Id:
5493
dbSNP Id:
rs121908445
ExAC:
7:147844634 T / C
gnomAD v2:
7-147844634-T-C
gnomAD v3:
7-148147542-T-C
gnomAD v4:
7-148147542-T-C
PubMed:
PMID:18179895
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148147542T>C , CM000669.2:g.148147542T>C | GRCh38 |
| NC_000007.13:g.147844634T>C , CM000669.1:g.147844634T>C | GRCh37 |
| NC_000007.12:g.147475567T>C | NCBI36 |
| NG_007092.2:g.2036182T>C | |
| NG_007092.3:g.2036542T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.2606T>C MANE Select | ENSP00000354778.3:p.Ile869Thr | |
| ENST00000636870.1:n.2468T>C | ||
| ENST00000637020.1:n.424T>C | ||
| ENST00000361727.7:c.2606T>C | ENSP00000354778.3:p.Ile869Thr | |
| ENST00000627772.2:n.779T>C | ||
| ENST00000628930.2:c.-218T>C | ENSP00000487516.1:n.-218T>C | |
| ENST00000631199.2:n.335T>C | ||
| NM_014141.5:c.2606T>C | NP_054860.1:p.Ile869Thr | |
| XM_006715919.1:c.1094T>C | XP_006715982.1:p.Ile365Thr | |
| XR_928095.1:n.214+7635A>G | ||
| NM_014141.6:c.2606T>C MANE Select | NP_054860.1:p.Ile869Thr |