Linked Data
ClinVar Variation Id:
2862664
ClinVar RCV Id:
RCV003699944
MyVariant Identifiers:
chr6:g.31937387G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969610G>C , CM000668.2:g.31969610G>C | GRCh38 |
| NC_000006.11:g.31937387G>C , CM000668.1:g.31937387G>C | GRCh37 |
| NC_000006.10:g.32045366G>C | NCBI36 |
| NG_032652.1:g.15807G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2684G>C | ENSP00000419905.1:n.*2684G>C | |
| ENST00000485349.6:n.4112G>C | ||
| ENST00000491994.2:c.*178G>C | ENSP00000417586.2:n.*178G>C | |
| ENST00000494058.6:n.3938G>C | ||
| ENST00000697831.1:c.3567G>C | ENSP00000513453.1:p.Gly1189= | |
| ENST00000697832.1:n.3789G>C | ||
| ENST00000697834.1:n.4354G>C | ||
| ENST00000697835.1:c.*3154G>C | ENSP00000513455.1:n.*3154G>C | |
| ENST00000697836.1:n.3990G>C | ||
| ENST00000697837.1:c.*752G>C | ENSP00000513456.1:n.*752G>C | |
| ENST00000697838.1:c.3501G>C | ENSP00000513457.1:p.Gly1167= | |
| ENST00000697839.1:n.4448G>C | ||
| ENST00000697840.1:c.3672G>C | ENSP00000513458.1:p.Gly1224= | |
| ENST00000697841.1:n.4547G>C | ||
| ENST00000697842.1:n.3891G>C | ||
| ENST00000375394.7:c.3636G>C MANE Select | ENSP00000364543.2:p.Gly1212= | |
| ENST00000375394.6:c.3636G>C | ENSP00000364543.2:p.Gly1212= | |
| ENST00000465703.5:n.4366G>C | ||
| ENST00000471818.1:n.565G>C | ||
| ENST00000474839.5:c.*3008G>C | ENSP00000420470.1:n.*3008G>C | |
| ENST00000483553.5:c.1166G>C | ||
| ENST00000491994.1:c.725G>C | ||
| NM_006929.4:c.3636G>C | NP_008860.4:p.Gly1212= | |
| XR_926301.3:n.3652G>C | ||
| NM_006929.5:c.3636G>C MANE Select | NP_008860.4:p.Gly1212= |