Linked Data
ClinVar Variation Id:
991672
dbSNP Id:
rs771231175
ExAC:
9:37429813 C / T
gnomAD v2:
9-37429813-C-T
gnomAD v3:
9-37429816-C-T
gnomAD v4:
9-37429816-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429816C>T , CM000671.2:g.37429816C>T | GRCh38 |
| NC_000009.11:g.37429813C>T , CM000671.1:g.37429813C>T | GRCh37 |
| NC_000009.10:g.37419813C>T | NCBI36 |
| NG_008135.1:g.12107C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.578C>T MANE Select | ENSP00000313432.6:p.Ala193Val | |
| ENST00000318158.10:c.578C>T | ENSP00000313432.6:p.Ala193Val | |
| ENST00000377824.8:n.615C>T | ||
| ENST00000460882.5:n.605C>T | ||
| ENST00000480596.5:n.1279C>T | ||
| ENST00000482603.1:n.31C>T | ||
| ENST00000491488.5:n.283C>T | ||
| ENST00000494290.1:c.149C>T | ENSP00000432021.1:p.Ala50Val | |
| ENST00000497693.1:n.2111C>T | ||
| ENST00000607784.1:c.578C>T | ENSP00000475569.1:p.Ala193Val | |
| NM_012203.1:c.578C>T | NP_036335.1:p.Ala193Val | |
| XM_005251631.1:c.257C>T | XP_005251688.1:p.Ala86Val | |
| XM_011518073.1:c.176C>T | XP_011516375.1:p.Ala59Val | |
| XR_929374.1:n.1023C>T | ||
| XM_017015320.2:c.578C>T | XP_016870809.1:p.Ala193Val | |
| XM_017015321.2:c.578C>T | XP_016870810.1:p.Ala193Val | |
| XM_017015323.2:c.176C>T | XP_016870812.1:p.Ala59Val | |
| XM_024447716.1:c.851C>T | XP_024303484.1:p.Ala284Val | |
| XM_024447717.1:c.851C>T | XP_024303485.1:p.Ala284Val | |
| XR_002956828.1:n.866C>T | ||
| XR_002956829.1:n.866C>T | ||
| XR_002956830.1:n.637C>T | ||
| XR_002956831.1:n.312C>T | ||
| XR_002956832.1:n.997C>T | ||
| NM_012203.2:c.578C>T MANE Select | NP_036335.1:p.Ala193Val |