Linked Data
dbSNP Id:
rs55730499
gnomAD v2:
6-161005610-C-T
gnomAD v3:
6-160584578-C-T
gnomAD v4:
6-160584578-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160584578C>T , CM000668.2:g.160584578C>T | GRCh38 |
| NC_000006.11:g.161005610C>T , CM000668.1:g.161005610C>T | GRCh37 |
| NC_000006.10:g.160925600C>T | NCBI36 |
| NG_016147.1:g.86798G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316300.10:c.4289+468G>A MANE Select | ENSP00000321334.6:n.4289+468G>A | |
| ENST00000316300.9:c.4289+468G>A | ENSP00000321334.5:n.4289+468G>A | |
| NM_005577.2:c.4289+468G>A | NP_005568.2:n.4289+468G>A | |
| NM_005577.3:c.4289+468G>A | NP_005568.2:n.4289+468G>A | |
| NM_005577.4:c.4289+468G>A MANE Select | NP_005568.2:n.4289+468G>A |