Linked Data
dbSNP Id:
rs765262697
gnomAD v3:
6-139373444-G-C
gnomAD v4:
6-139373444-G-C
MyVariant Identifiers:
chr6:g.139694581G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373444G>C , CM000668.2:g.139373444G>C | GRCh38 |
| NC_000006.11:g.139694581G>C , CM000668.1:g.139694581G>C | GRCh37 |
| NC_000006.10:g.139736274G>C | NCBI36 |
| NG_016169.1:g.6205C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.501C>G MANE Select | ENSP00000356623.2:p.Pro167= | |
| ENST00000367651.3:c.501C>G | ENSP00000356623.2:p.Pro167= | |
| ENST00000536159.2:c.501C>G | ENSP00000442831.1:p.Pro167= | |
| ENST00000537332.2:c.516C>G | ENSP00000444198.2:p.Pro172= | |
| ENST00000618718.1:c.476+25C>G | ENSP00000479918.1:n.476+25C>G | |
| NM_001168388.2:c.501C>G | NP_001161860.1:p.Pro167= | |
| NM_001168389.2:c.516C>G | NP_001161861.2:p.Pro172= | |
| NM_006079.4:c.501C>G | NP_006070.2:p.Pro167= | |
| NM_006079.5:c.501C>G MANE Select | NP_006070.2:p.Pro167= | |
| NM_001168388.3:c.501C>G | NP_001161860.1:p.Pro167= | |
| NM_001168389.3:c.516C>G | NP_001161861.2:p.Pro172= |