Linked Data
ClinVar Variation Id:
143913
ClinVar RCV Id:
RCV000133448
dbSNP Id:
rs56019966
ExAC:
6:18139272 C / T
gnomAD v2:
6-18139272-C-T
gnomAD v3:
6-18139041-C-T
gnomAD v4:
6-18139041-C-T
PubMed:
PMID:23400745
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18139041C>T , CM000668.2:g.18139041C>T | GRCh38 |
| NC_000006.11:g.18139272C>T , CM000668.1:g.18139272C>T | GRCh37 |
| NC_000006.10:g.18247251C>T | NCBI36 |
| NG_012137.2:g.21103G>A | |
| NG_012137.3:g.21103G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309983.5:c.420-4G>A MANE Select | ENSP00000312304.4:n.420-4G>A | |
| ENST00000309983.4:c.420-4G>A | ENSP00000312304.4:n.420-4G>A | |
| NM_000367.3:c.420-4G>A | NP_000358.1:n.420-4G>A | |
| XM_011514839.1:c.420-4G>A | XP_011513141.1:n.420-4G>A | |
| XM_011514840.1:c.351-4G>A | XP_011513142.1:n.351-4G>A | |
| NM_000367.4:c.420-4G>A | NP_000358.1:n.420-4G>A | |
| NM_001346817.1:c.420-4G>A | NP_001333746.1:n.420-4G>A | |
| NM_001346818.1:c.420-4G>A | NP_001333747.1:n.420-4G>A | |
| NM_000367.5:c.420-4G>A MANE Select | NP_000358.1:n.420-4G>A |