Linked Data
ClinVar Variation Id:
2674669
dbSNP Id:
rs768355659
gnomAD v2:
9-99003189-C-T
gnomAD v4:
9-96240907-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96240907C>T , CM000671.2:g.96240907C>T | GRCh38 |
| NC_000009.11:g.99003189C>T , CM000671.1:g.99003189C>T | GRCh37 |
| NC_000009.10:g.98043010C>T | NCBI36 |
| NG_008157.1:g.66246G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375262.4:c.672+3422G>A | ENSP00000364411.2:n.672+3422G>A | |
| ENST00000375263.8:c.673G>A MANE Select | ENSP00000364412.3:p.Val225Met | |
| ENST00000463517.2:n.2215G>A | ||
| ENST00000464104.6:n.1611G>A | ||
| ENST00000467499.6:c.*372G>A | ENSP00000498077.1:n.*372G>A | |
| ENST00000484816.2:n.24G>A | ||
| ENST00000494814.6:n.223G>A | ||
| ENST00000643789.1:c.2965G>A | ||
| ENST00000648146.1:c.673G>A | ENSP00000497238.1:p.Val225Met | |
| ENST00000648332.1:c.350G>A | ENSP00000497562.1:n.350G>A | |
| ENST00000648799.1:c.565G>A | ENSP00000498039.1:p.Val189Met | |
| ENST00000650005.1:c.602G>A | ENSP00000498121.1:n.602G>A | |
| ENST00000375262.3:c.672+3422G>A | ENSP00000364411.2:n.672+3422G>A | |
| ENST00000375263.7:c.673G>A | ENSP00000364412.3:p.Val225Met | |
| ENST00000464104.5:n.526G>A | ||
| ENST00000484816.1:n.23G>A | ||
| ENST00000494814.5:n.232G>A | ||
| NM_000197.1:c.673G>A | NP_000188.1:p.Val225Met | |
| XM_005251970.3:c.313G>A | XP_005252027.1:p.Val105Met | |
| XM_011518618.1:c.673G>A | XP_011516920.1:p.Val225Met | |
| XM_011518619.1:c.673G>A | XP_011516921.1:p.Val225Met | |
| XM_011518620.1:c.565G>A | XP_011516922.1:p.Val189Met | |
| XM_011518621.1:c.711G>A | XP_011516923.1:p.Arg237= | |
| NM_000197.2:c.673G>A MANE Select | NP_000188.1:p.Val225Met | |
| XM_011518618.2:c.673G>A | XP_011516920.1:p.Val225Met | |
| XM_011518619.2:c.673G>A | XP_011516921.1:p.Val225Met | |
| XM_017014671.1:c.673G>A | XP_016870160.1:p.Val225Met | |
| XM_017014672.1:c.673G>A | XP_016870161.1:p.Val225Met | |
| XM_017014673.2:c.637G>A | XP_016870162.1:p.Val213Met | |
| XM_017014674.1:c.565G>A | XP_016870163.1:p.Val189Met | |
| XM_017014675.1:c.511G>A | XP_016870164.1:p.Val171Met | |
| XM_017014677.1:c.313G>A | XP_016870166.1:p.Val105Met | |
| XM_024447529.1:c.511G>A | XP_024303297.1:p.Val171Met | |
| XR_002956778.1:n.3145G>A |