Linked Data
dbSNP Id:
rs1335041572
gnomAD v4:
6-139373417-G-A
MyVariant Identifiers:
chr6:g.139694554G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373417G>A , CM000668.2:g.139373417G>A | GRCh38 |
| NC_000006.11:g.139694554G>A , CM000668.1:g.139694554G>A | GRCh37 |
| NC_000006.10:g.139736247G>A | NCBI36 |
| NG_016169.1:g.6232C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.528C>T MANE Select | ENSP00000356623.2:p.Pro176= | |
| ENST00000367651.3:c.528C>T | ENSP00000356623.2:p.Pro176= | |
| ENST00000536159.2:c.528C>T | ENSP00000442831.1:p.Pro176= | |
| ENST00000537332.2:c.543C>T | ENSP00000444198.2:p.Pro181= | |
| ENST00000618718.1:c.476+52C>T | ENSP00000479918.1:n.476+52C>T | |
| NM_001168388.2:c.528C>T | NP_001161860.1:p.Pro176= | |
| NM_001168389.2:c.543C>T | NP_001161861.2:p.Pro181= | |
| NM_006079.4:c.528C>T | NP_006070.2:p.Pro176= | |
| NM_006079.5:c.528C>T MANE Select | NP_006070.2:p.Pro176= | |
| NM_001168388.3:c.528C>T | NP_001161860.1:p.Pro176= | |
| NM_001168389.3:c.543C>T | NP_001161861.2:p.Pro181= |