Linked Data
ClinVar Variation Id:
595834
dbSNP Id:
rs35985869
ExAC:
6:31927839 A / G
gnomAD v2:
6-31927839-A-G
gnomAD v3:
6-31960062-A-G
gnomAD v4:
6-31960062-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31960062A>G , CM000668.2:g.31960062A>G | GRCh38 |
| NC_000006.11:g.31927839A>G , CM000668.1:g.31927839A>G | GRCh37 |
| NC_000006.10:g.32035818A>G | NCBI36 |
| NG_032652.1:g.6259A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.179A>G | ENSP00000419905.1:p.Gln60Arg | |
| ENST00000483553.6:c.179A>G | ENSP00000420332.2:p.Gln60Arg | |
| ENST00000485349.6:n.220A>G | ||
| ENST00000491994.2:c.179A>G | ENSP00000417586.2:p.Gln60Arg | |
| ENST00000494058.6:n.236A>G | ||
| ENST00000697831.1:c.179A>G | ENSP00000513453.1:p.Gln60Arg | |
| ENST00000697832.1:n.255A>G | ||
| ENST00000697833.1:c.179A>G | ENSP00000513454.1:p.Gln60Arg | |
| ENST00000697834.1:n.231A>G | ||
| ENST00000697835.1:c.179A>G | ENSP00000513455.1:p.Gln60Arg | |
| ENST00000697836.1:n.215A>G | ||
| ENST00000697837.1:c.179A>G | ENSP00000513456.1:p.Gln60Arg | |
| ENST00000697838.1:c.44A>G | ENSP00000513457.1:p.Gln15Arg | |
| ENST00000697839.1:n.201A>G | ||
| ENST00000697840.1:c.179A>G | ENSP00000513458.1:p.Gln60Arg | |
| ENST00000697841.1:n.190A>G | ||
| ENST00000697842.1:n.179A>G | ||
| ENST00000375394.7:c.179A>G MANE Select | ENSP00000364543.2:p.Gln60Arg | |
| ENST00000375394.6:c.179A>G | ENSP00000364543.2:p.Gln60Arg | |
| ENST00000461073.5:c.179A>G | ENSP00000419905.1:p.Gln60Arg | |
| ENST00000465703.5:n.231A>G | ||
| ENST00000474839.5:c.126+662A>G | ENSP00000420470.1:n.126+662A>G | |
| ENST00000488648.5:n.255A>G | ||
| ENST00000628157.1:c.126+662A>G | ENSP00000485707.1:n.126+662A>G | |
| NM_006929.4:c.179A>G | NP_008860.4:p.Gln60Arg | |
| XM_006715168.2:c.179A>G | XP_006715231.1:p.Gln60Arg | |
| XM_011514815.1:c.179A>G | XP_011513117.1:p.Gln60Arg | |
| XR_926301.1:n.267A>G | ||
| XM_011514815.3:c.179A>G | XP_011513117.1:p.Gln60Arg | |
| XR_001743586.2:n.215A>G | ||
| XR_926301.3:n.215A>G | ||
| NM_006929.5:c.179A>G MANE Select | NP_008860.4:p.Gln60Arg |