Linked Data
ClinVar Variation Id:
1766389
ClinVar RCV Id:
RCV002371432
dbSNP Id:
rs766228863
ExAC:
9:37436718 C / T
gnomAD v2:
9-37436718-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436721C>T , CM000671.2:g.37436721C>T | GRCh38 |
| NC_000009.11:g.37436718C>T , CM000671.1:g.37436718C>T | GRCh37 |
| NC_000009.10:g.37426718C>T | NCBI36 |
| NG_008135.1:g.19012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.926C>T MANE Select | ENSP00000313432.6:p.Ala309Val | |
| ENST00000318158.10:c.926C>T | ENSP00000313432.6:p.Ala309Val | |
| ENST00000460882.5:n.953C>T | ||
| ENST00000480596.5:n.1627C>T | ||
| ENST00000494290.1:c.*52-160C>T | ENSP00000432021.1:n.*52-160C>T | |
| ENST00000497693.1:n.4494C>T | ||
| NM_012203.1:c.926C>T | NP_036335.1:p.Ala309Val | |
| XM_005251631.1:c.605C>T | XP_005251688.1:p.Ala202Val | |
| XM_011518073.1:c.524C>T | XP_011516375.1:p.Ala175Val | |
| XM_017015320.2:c.946-690C>T | XP_016870809.1:n.946-690C>T | |
| XM_017015321.2:c.866-690C>T | XP_016870810.1:n.866-690C>T | |
| XM_017015323.2:c.544-690C>T | XP_016870812.1:n.544-690C>T | |
| XM_024447716.1:c.1219-690C>T | XP_024303484.1:n.1219-690C>T | |
| XM_024447717.1:c.1139-690C>T | XP_024303485.1:n.1139-690C>T | |
| XR_002956828.1:n.1234-690C>T | ||
| XR_002956829.1:n.1154-690C>T | ||
| XR_002956830.1:n.2346C>T | ||
| XR_002956831.1:n.2021C>T | ||
| XR_002956832.1:n.1345C>T | ||
| NM_012203.2:c.926C>T MANE Select | NP_036335.1:p.Ala309Val |