Linked Data
dbSNP Id:
rs1562314053
gnomAD v2:
6-139694257-G-A
gnomAD v4:
6-139373120-G-A
MyVariant Identifiers:
chr6:g.139694257_139694263delinsATTTCGA (hg19)
chr6:g.139373120_139373126delinsATTTCGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373120G>A , CM000668.2:g.139373120G>A | GRCh38 |
| NC_000006.11:g.139694257G>A , CM000668.1:g.139694257G>A | GRCh37 |
| NC_000006.10:g.139735950G>A | NCBI36 |
| NG_016169.1:g.6529C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.*12C>T MANE Select | ENSP00000356623.2:n.*12C>T | |
| ENST00000367651.3:c.*12C>T | ENSP00000356623.2:n.*12C>T | |
| ENST00000536159.2:c.*12C>T | ENSP00000442831.1:n.*12C>T | |
| ENST00000537332.2:c.*12C>T | ENSP00000444198.2:n.*12C>T | |
| ENST00000618718.1:c.*12C>T | ENSP00000479918.1:n.*12C>T | |
| NM_001168388.2:c.*12C>T | NP_001161860.1:n.*12C>T | |
| NM_001168389.2:c.*12C>T | NP_001161861.2:n.*12C>T | |
| NM_006079.4:c.*12C>T | NP_006070.2:n.*12C>T | |
| NM_006079.5:c.*12C>T MANE Select | NP_006070.2:n.*12C>T | |
| NM_001168388.3:c.*12C>T | NP_001161860.1:n.*12C>T | |
| NM_001168389.3:c.*12C>T | NP_001161861.2:n.*12C>T |