Linked Data
ClinVar Variation Id:
2850674
ClinVar RCV Id:
RCV003688393
MyVariant Identifiers:
chr9:g.99006650G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96244368G>C , CM000671.2:g.96244368G>C | GRCh38 |
| NC_000009.11:g.99006650G>C , CM000671.1:g.99006650G>C | GRCh37 |
| NC_000009.10:g.98046471G>C | NCBI36 |
| NG_008157.1:g.62785C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375262.4:c.633C>G | ENSP00000364411.2:p.Ala211= | |
| ENST00000375263.8:c.633C>G MANE Select | ENSP00000364412.3:p.Ala211= | |
| ENST00000463517.2:n.2175C>G | ||
| ENST00000464104.6:n.1571C>G | ||
| ENST00000467499.6:c.*332C>G | ENSP00000498077.1:n.*332C>G | |
| ENST00000494814.6:n.145C>G | ||
| ENST00000643789.1:c.2925C>G | ||
| ENST00000648146.1:c.633C>G | ENSP00000497238.1:p.Ala211= | |
| ENST00000648332.1:c.310C>G | ENSP00000497562.1:p.Pro104Ala | |
| ENST00000648799.1:c.525C>G | ENSP00000498039.1:p.Ala175= | |
| ENST00000650005.1:c.562C>G | ENSP00000498121.1:p.Pro188Ala | |
| ENST00000375262.3:c.633C>G | ENSP00000364411.2:p.Ala211= | |
| ENST00000375263.7:c.633C>G | ENSP00000364412.3:p.Ala211= | |
| ENST00000464104.5:n.486C>G | ||
| ENST00000494814.5:n.154C>G | ||
| NM_000197.1:c.633C>G | NP_000188.1:p.Ala211= | |
| XM_005251970.3:c.273C>G | XP_005252027.1:p.Ala91= | |
| XM_011518618.1:c.633C>G | XP_011516920.1:p.Ala211= | |
| XM_011518619.1:c.633C>G | XP_011516921.1:p.Ala211= | |
| XM_011518620.1:c.525C>G | XP_011516922.1:p.Ala175= | |
| XM_011518621.1:c.633C>G | XP_011516923.1:p.Ala211= | |
| NM_000197.2:c.633C>G MANE Select | NP_000188.1:p.Ala211= | |
| XM_011518618.2:c.633C>G | XP_011516920.1:p.Ala211= | |
| XM_011518619.2:c.633C>G | XP_011516921.1:p.Ala211= | |
| XM_017014671.1:c.633C>G | XP_016870160.1:p.Ala211= | |
| XM_017014672.1:c.633C>G | XP_016870161.1:p.Ala211= | |
| XM_017014673.2:c.597C>G | XP_016870162.1:p.Ala199= | |
| XM_017014674.1:c.525C>G | XP_016870163.1:p.Ala175= | |
| XM_017014675.1:c.471C>G | XP_016870164.1:p.Ala157= | |
| XM_017014677.1:c.273C>G | XP_016870166.1:p.Ala91= | |
| XM_024447529.1:c.471C>G | XP_024303297.1:p.Ala157= | |
| XR_002956778.1:n.3067C>G |