Linked Data
dbSNP Id:
rs745532716
gnomAD v4:
6-139373052-C-A
MyVariant Identifiers:
chr6:g.139373052C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373052C>A , CM000668.2:g.139373052C>A | GRCh38 |
| NC_000006.11:g.139694189C>A , CM000668.1:g.139694189C>A | GRCh37 |
| NC_000006.10:g.139735882C>A | NCBI36 |
| NG_016169.1:g.6597G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.*80G>T MANE Select | ENSP00000356623.2:n.*80G>T | |
| ENST00000367651.3:c.*80G>T | ENSP00000356623.2:n.*80G>T | |
| ENST00000536159.2:c.*80G>T | ENSP00000442831.1:n.*80G>T | |
| ENST00000537332.2:c.*80G>T | ENSP00000444198.2:n.*80G>T | |
| NM_001168388.2:c.*80G>T | NP_001161860.1:n.*80G>T | |
| NM_001168389.2:c.*80G>T | NP_001161861.2:n.*80G>T | |
| NM_006079.4:c.*80G>T | NP_006070.2:n.*80G>T | |
| NM_006079.5:c.*80G>T MANE Select | NP_006070.2:n.*80G>T | |
| NM_001168388.3:c.*80G>T | NP_001161860.1:n.*80G>T | |
| NM_001168389.3:c.*80G>T | NP_001161861.2:n.*80G>T |