Linked Data
ClinVar Variation Id:
438033
ClinVar RCV Id:
RCV000505005
RCV000670550
RCV001057476
RCV001075684
RCV001829438
RCV002231177
RCV003446101
dbSNP Id:
rs751111524
ExAC:
1:215987248 T / C
gnomAD v2:
1-215987248-T-C
gnomAD v3:
1-215813906-T-C
gnomAD v4:
1-215813906-T-C
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215813906T>C , CM000663.2:g.215813906T>C | GRCh38 |
| NC_000001.10:g.215987248T>C , CM000663.1:g.215987248T>C | GRCh37 |
| NC_000001.9:g.214053871T>C | NCBI36 |
| NG_009497.1:g.614491A>G | |
| NG_009497.2:g.614543A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.9571-2A>G MANE Select | ENSP00000305941.3:n.9571-2A>G | |
| ENST00000674083.1:c.9571-2A>G | ENSP00000501296.1:n.9571-2A>G | |
| ENST00000307340.7:c.9571-2A>G | ENSP00000305941.3:n.9571-2A>G | |
| NM_206933.2:c.9571-2A>G | NP_996816.2:n.9571-2A>G | |
| NM_206933.3:c.9571-2A>G | NP_996816.2:n.9571-2A>G | |
| NM_206933.4:c.9571-2A>G MANE Select | NP_996816.3:n.9571-2A>G |