Linked Data
ClinVar Variation Id:
2991084
ClinVar RCV Id:
RCV003849747
dbSNP Id:
rs564315170
gnomAD v4:
9-96235547-C-G
MyVariant Identifiers:
chr9:g.98997829C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96235547C>G , CM000671.2:g.96235547C>G | GRCh38 |
| NC_000009.11:g.98997829C>G , CM000671.1:g.98997829C>G | GRCh37 |
| NC_000009.10:g.98037650C>G | NCBI36 |
| NG_008157.1:g.71606G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375262.4:c.696G>C | ENSP00000364411.2:p.Pro232= | |
| ENST00000375263.8:c.846G>C MANE Select | ENSP00000364412.3:p.Pro282= | |
| ENST00000463517.2:n.2388G>C | ||
| ENST00000464104.6:n.1784G>C | ||
| ENST00000467499.6:c.*545G>C | ENSP00000498077.1:n.*545G>C | |
| ENST00000494814.6:n.396G>C | ||
| ENST00000643789.1:c.3138G>C | ||
| ENST00000648146.1:c.984G>C | ENSP00000497238.1:n.984G>C | |
| ENST00000648332.1:c.523G>C | ENSP00000497562.1:n.523G>C | |
| ENST00000650005.1:c.775G>C | ENSP00000498121.1:n.775G>C | |
| ENST00000375262.3:c.696G>C | ENSP00000364411.2:p.Pro232= | |
| ENST00000375263.7:c.846G>C | ENSP00000364412.3:p.Pro282= | |
| ENST00000464104.5:n.699G>C | ||
| ENST00000467499.5:n.106G>C | ||
| ENST00000494814.5:n.405G>C | ||
| NM_000197.1:c.846G>C | NP_000188.1:p.Pro282= | |
| XM_005251970.3:c.486G>C | XP_005252027.1:p.Pro162= | |
| XM_011518618.1:c.846G>C | XP_011516920.1:p.Pro282= | |
| XM_011518619.1:c.846G>C | XP_011516921.1:p.Pro282= | |
| XM_011518620.1:c.738G>C | XP_011516922.1:p.Pro246= | |
| NM_000197.2:c.846G>C MANE Select | NP_000188.1:p.Pro282= | |
| XM_011518618.2:c.846G>C | XP_011516920.1:p.Pro282= | |
| XM_011518619.2:c.846G>C | XP_011516921.1:p.Pro282= | |
| XM_017014671.1:c.846G>C | XP_016870160.1:p.Pro282= | |
| XM_017014672.1:c.846G>C | XP_016870161.1:p.Pro282= | |
| XM_017014673.2:c.810G>C | XP_016870162.1:p.Pro270= | |
| XM_017014674.1:c.738G>C | XP_016870163.1:p.Pro246= | |
| XM_017014675.1:c.684G>C | XP_016870164.1:p.Pro228= | |
| XM_017014677.1:c.486G>C | XP_016870166.1:p.Pro162= | |
| XM_024447529.1:c.684G>C | XP_024303297.1:p.Pro228= | |
| XR_002956778.1:n.3318G>C |