Linked Data
ClinVar Variation Id:
8181
ClinVar RCV Id:
RCV000008660
dbSNP Id:
rs3127334
gnomAD v2:
6-166574246-G-A
gnomAD v3:
6-166160758-G-A
gnomAD v4:
6-166160758-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.166160758G>A , CM000668.2:g.166160758G>A | GRCh38 |
| NC_000006.11:g.166574246G>A , CM000668.1:g.166574246G>A | GRCh37 |
| NC_000006.10:g.166494236G>A | NCBI36 |
| NG_012135.1:g.12886C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366876.7:c.1037+79C>T MANE Select | ENSP00000355841.3:n.1037+79C>T | |
| ENST00000296946.6:c.1034+79C>T | ENSP00000296946.2:n.1034+79C>T | |
| ENST00000366871.7:c.860+79C>T | ENSP00000355836.3:n.860+79C>T | |
| ENST00000366876.6:c.1037+79C>T | ENSP00000355841.2:n.1037+79C>T | |
| NM_001270484.1:c.860+79C>T | NP_001257413.1:n.860+79C>T | |
| NM_003181.3:c.1034+79C>T | NP_003172.1:n.1034+79C>T | |
| XM_011536080.1:c.1037+79C>T | XP_011534382.1:n.1037+79C>T | |
| XM_011536081.1:c.860+79C>T | XP_011534383.1:n.860+79C>T | |
| NM_001366285.1:c.1037+79C>T | NP_001353214.1:n.1037+79C>T | |
| NM_001366286.1:c.1037+79C>T | NP_001353215.1:n.1037+79C>T | |
| NM_001270484.2:c.860+79C>T | NP_001257413.1:n.860+79C>T | |
| NM_001366285.2:c.1037+79C>T MANE Select | NP_001353214.1:n.1037+79C>T | |
| NM_001366286.2:c.1037+79C>T | NP_001353215.1:n.1037+79C>T | |
| NM_003181.4:c.1034+79C>T | NP_003172.1:n.1034+79C>T |