Linked Data
ClinVar Variation Id:
4873
ClinVar RCV Id:
RCV000005149
dbSNP Id:
rs119481074
gnomAD v3:
9-96240877-T-C
gnomAD v4:
9-96240877-T-C
PubMed:
PMID:8075637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96240877T>C , CM000671.2:g.96240877T>C | GRCh38 |
| NC_000009.11:g.99003159T>C , CM000671.1:g.99003159T>C | GRCh37 |
| NC_000009.10:g.98042980T>C | NCBI36 |
| NG_008157.1:g.66276A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375262.4:c.672+3452A>G | ENSP00000364411.2:n.672+3452A>G | |
| ENST00000375263.8:c.703A>G MANE Select | ENSP00000364412.3:p.Met235Val | |
| ENST00000463517.2:n.2245A>G | ||
| ENST00000464104.6:n.1641A>G | ||
| ENST00000467499.6:c.*402A>G | ENSP00000498077.1:n.*402A>G | |
| ENST00000484816.2:n.54A>G | ||
| ENST00000494814.6:n.253A>G | ||
| ENST00000643789.1:c.2995A>G | ||
| ENST00000648146.1:c.703A>G | ENSP00000497238.1:p.Met235Val | |
| ENST00000648332.1:c.380A>G | ENSP00000497562.1:n.380A>G | |
| ENST00000648799.1:c.595A>G | ENSP00000498039.1:p.Met199Val | |
| ENST00000650005.1:c.632A>G | ENSP00000498121.1:n.632A>G | |
| ENST00000375262.3:c.672+3452A>G | ENSP00000364411.2:n.672+3452A>G | |
| ENST00000375263.7:c.703A>G | ENSP00000364412.3:p.Met235Val | |
| ENST00000464104.5:n.556A>G | ||
| ENST00000484816.1:n.53A>G | ||
| ENST00000494814.5:n.262A>G | ||
| NM_000197.1:c.703A>G | NP_000188.1:p.Met235Val | |
| XM_005251970.3:c.343A>G | XP_005252027.1:p.Met115Val | |
| XM_011518618.1:c.703A>G | XP_011516920.1:p.Met235Val | |
| XM_011518619.1:c.703A>G | XP_011516921.1:p.Met235Val | |
| XM_011518620.1:c.595A>G | XP_011516922.1:p.Met199Val | |
| XM_011518621.1:c.*24A>G | XP_011516923.1:n.*24A>G | |
| NM_000197.2:c.703A>G MANE Select | NP_000188.1:p.Met235Val | |
| XM_011518618.2:c.703A>G | XP_011516920.1:p.Met235Val | |
| XM_011518619.2:c.703A>G | XP_011516921.1:p.Met235Val | |
| XM_017014671.1:c.703A>G | XP_016870160.1:p.Met235Val | |
| XM_017014672.1:c.703A>G | XP_016870161.1:p.Met235Val | |
| XM_017014673.2:c.667A>G | XP_016870162.1:p.Met223Val | |
| XM_017014674.1:c.595A>G | XP_016870163.1:p.Met199Val | |
| XM_017014675.1:c.541A>G | XP_016870164.1:p.Met181Val | |
| XM_017014677.1:c.343A>G | XP_016870166.1:p.Met115Val | |
| XM_024447529.1:c.541A>G | XP_024303297.1:p.Met181Val | |
| XR_002956778.1:n.3175A>G |