Linked Data
dbSNP Id:
rs751933456
gnomAD v2:
6-39183524-G-T
gnomAD v3:
6-39215748-G-T
gnomAD v4:
6-39215748-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39215748G>T , CM000668.2:g.39215748G>T | GRCh38 |
| NC_000006.11:g.39183524G>T , CM000668.1:g.39183524G>T | GRCh37 |
| NC_000006.10:g.39291502G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359534.4:c.186+13178C>A MANE Select | ENSP00000352527.3:n.186+13178C>A | |
| ENST00000359534.3:c.186+13178C>A | ENSP00000352527.3:n.186+13178C>A | |
| NM_003740.3:c.186+13178C>A | NP_003731.1:n.186+13178C>A | |
| XM_005249456.1:c.186+13178C>A | XP_005249513.1:n.186+13178C>A | |
| NM_003740.4:c.186+13178C>A MANE Select | NP_003731.1:n.186+13178C>A |