Linked Data
ClinVar Variation Id:
2776043
ClinVar RCV Id:
RCV003662920
dbSNP Id:
rs1408646418
gnomAD v2:
9-99006644-T-C
gnomAD v3:
9-96244362-T-C
gnomAD v4:
9-96244362-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96244362T>C , CM000671.2:g.96244362T>C | GRCh38 |
| NC_000009.11:g.99006644T>C , CM000671.1:g.99006644T>C | GRCh37 |
| NC_000009.10:g.98046465T>C | NCBI36 |
| NG_008157.1:g.62791A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375262.4:c.639A>G | ENSP00000364411.2:p.Gln213= | |
| ENST00000375263.8:c.639A>G MANE Select | ENSP00000364412.3:p.Gln213= | |
| ENST00000463517.2:n.2181A>G | ||
| ENST00000464104.6:n.1577A>G | ||
| ENST00000467499.6:c.*338A>G | ENSP00000498077.1:n.*338A>G | |
| ENST00000494814.6:n.151A>G | ||
| ENST00000643789.1:c.2931A>G | ||
| ENST00000648146.1:c.639A>G | ENSP00000497238.1:p.Gln213= | |
| ENST00000648332.1:c.316A>G | ENSP00000497562.1:p.Arg106Gly | |
| ENST00000648799.1:c.531A>G | ENSP00000498039.1:p.Gln177= | |
| ENST00000650005.1:c.568A>G | ENSP00000498121.1:p.Arg190Gly | |
| ENST00000375262.3:c.639A>G | ENSP00000364411.2:p.Gln213= | |
| ENST00000375263.7:c.639A>G | ENSP00000364412.3:p.Gln213= | |
| ENST00000464104.5:n.492A>G | ||
| ENST00000494814.5:n.160A>G | ||
| NM_000197.1:c.639A>G | NP_000188.1:p.Gln213= | |
| XM_005251970.3:c.279A>G | XP_005252027.1:p.Gln93= | |
| XM_011518618.1:c.639A>G | XP_011516920.1:p.Gln213= | |
| XM_011518619.1:c.639A>G | XP_011516921.1:p.Gln213= | |
| XM_011518620.1:c.531A>G | XP_011516922.1:p.Gln177= | |
| XM_011518621.1:c.639A>G | XP_011516923.1:p.Gln213= | |
| NM_000197.2:c.639A>G MANE Select | NP_000188.1:p.Gln213= | |
| XM_011518618.2:c.639A>G | XP_011516920.1:p.Gln213= | |
| XM_011518619.2:c.639A>G | XP_011516921.1:p.Gln213= | |
| XM_017014671.1:c.639A>G | XP_016870160.1:p.Gln213= | |
| XM_017014672.1:c.639A>G | XP_016870161.1:p.Gln213= | |
| XM_017014673.2:c.603A>G | XP_016870162.1:p.Gln201= | |
| XM_017014674.1:c.531A>G | XP_016870163.1:p.Gln177= | |
| XM_017014675.1:c.477A>G | XP_016870164.1:p.Gln159= | |
| XM_017014677.1:c.279A>G | XP_016870166.1:p.Gln93= | |
| XM_024447529.1:c.477A>G | XP_024303297.1:p.Gln159= | |
| XR_002956778.1:n.3073A>G |