Linked Data
dbSNP Id:
rs1414864195
gnomAD v2:
6-39183782-G-A
gnomAD v3:
6-39216006-G-A
gnomAD v4:
6-39216006-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39216006G>A , CM000668.2:g.39216006G>A | GRCh38 |
| NC_000006.11:g.39183782G>A , CM000668.1:g.39183782G>A | GRCh37 |
| NC_000006.10:g.39291760G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359534.4:c.186+12920C>T MANE Select | ENSP00000352527.3:n.186+12920C>T | |
| ENST00000359534.3:c.186+12920C>T | ENSP00000352527.3:n.186+12920C>T | |
| NM_003740.3:c.186+12920C>T | NP_003731.1:n.186+12920C>T | |
| XM_005249456.1:c.186+12920C>T | XP_005249513.1:n.186+12920C>T | |
| NM_003740.4:c.186+12920C>T MANE Select | NP_003731.1:n.186+12920C>T |