Linked Data
ClinVar Variation Id:
2819694
ClinVar RCV Id:
RCV003706409
dbSNP Id:
rs1197161601
gnomAD v2:
9-98997847-G-A
gnomAD v4:
9-96235565-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96235565G>A , CM000671.2:g.96235565G>A | GRCh38 |
| NC_000009.11:g.98997847G>A , CM000671.1:g.98997847G>A | GRCh37 |
| NC_000009.10:g.98037668G>A | NCBI36 |
| NG_008157.1:g.71588C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375262.4:c.678C>T | ENSP00000364411.2:p.Gly226= | |
| ENST00000375263.8:c.828C>T MANE Select | ENSP00000364412.3:p.Gly276= | |
| ENST00000463517.2:n.2370C>T | ||
| ENST00000464104.6:n.1766C>T | ||
| ENST00000467499.6:c.*527C>T | ENSP00000498077.1:n.*527C>T | |
| ENST00000494814.6:n.378C>T | ||
| ENST00000643789.1:c.3120C>T | ||
| ENST00000648146.1:c.966C>T | ENSP00000497238.1:n.966C>T | |
| ENST00000648332.1:c.505C>T | ENSP00000497562.1:n.505C>T | |
| ENST00000648799.1:c.720C>T | ENSP00000498039.1:p.Gly240= | |
| ENST00000650005.1:c.757C>T | ENSP00000498121.1:n.757C>T | |
| ENST00000375262.3:c.678C>T | ENSP00000364411.2:p.Gly226= | |
| ENST00000375263.7:c.828C>T | ENSP00000364412.3:p.Gly276= | |
| ENST00000464104.5:n.681C>T | ||
| ENST00000467499.5:n.88C>T | ||
| ENST00000494814.5:n.387C>T | ||
| NM_000197.1:c.828C>T | NP_000188.1:p.Gly276= | |
| XM_005251970.3:c.468C>T | XP_005252027.1:p.Gly156= | |
| XM_011518618.1:c.828C>T | XP_011516920.1:p.Gly276= | |
| XM_011518619.1:c.828C>T | XP_011516921.1:p.Gly276= | |
| XM_011518620.1:c.720C>T | XP_011516922.1:p.Gly240= | |
| NM_000197.2:c.828C>T MANE Select | NP_000188.1:p.Gly276= | |
| XM_011518618.2:c.828C>T | XP_011516920.1:p.Gly276= | |
| XM_011518619.2:c.828C>T | XP_011516921.1:p.Gly276= | |
| XM_017014671.1:c.828C>T | XP_016870160.1:p.Gly276= | |
| XM_017014672.1:c.828C>T | XP_016870161.1:p.Gly276= | |
| XM_017014673.2:c.792C>T | XP_016870162.1:p.Gly264= | |
| XM_017014674.1:c.720C>T | XP_016870163.1:p.Gly240= | |
| XM_017014675.1:c.666C>T | XP_016870164.1:p.Gly222= | |
| XM_017014677.1:c.468C>T | XP_016870166.1:p.Gly156= | |
| XM_024447529.1:c.666C>T | XP_024303297.1:p.Gly222= | |
| XR_002956778.1:n.3300C>T |