Linked Data
ClinVar Variation Id:
2113785
ClinVar RCV Id:
RCV003029720
MyVariant Identifiers:
chr9:g.37436719A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436722A>G , CM000671.2:g.37436722A>G | GRCh38 |
| NC_000009.11:g.37436719A>G , CM000671.1:g.37436719A>G | GRCh37 |
| NC_000009.10:g.37426719A>G | NCBI36 |
| NG_008135.1:g.19013A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.927A>G MANE Select | ENSP00000313432.6:p.Ala309= | |
| ENST00000318158.10:c.927A>G | ENSP00000313432.6:p.Ala309= | |
| ENST00000460882.5:n.954A>G | ||
| ENST00000480596.5:n.1628A>G | ||
| ENST00000494290.1:c.*52-159A>G | ENSP00000432021.1:n.*52-159A>G | |
| ENST00000497693.1:n.4495A>G | ||
| NM_012203.1:c.927A>G | NP_036335.1:p.Ala309= | |
| XM_005251631.1:c.606A>G | XP_005251688.1:p.Ala202= | |
| XM_011518073.1:c.525A>G | XP_011516375.1:p.Ala175= | |
| XM_017015320.2:c.946-689A>G | XP_016870809.1:n.946-689A>G | |
| XM_017015321.2:c.866-689A>G | XP_016870810.1:n.866-689A>G | |
| XM_017015323.2:c.544-689A>G | XP_016870812.1:n.544-689A>G | |
| XM_024447716.1:c.1219-689A>G | XP_024303484.1:n.1219-689A>G | |
| XM_024447717.1:c.1139-689A>G | XP_024303485.1:n.1139-689A>G | |
| XR_002956828.1:n.1234-689A>G | ||
| XR_002956829.1:n.1154-689A>G | ||
| XR_002956830.1:n.2347A>G | ||
| XR_002956831.1:n.2022A>G | ||
| XR_002956832.1:n.1346A>G | ||
| NM_012203.2:c.927A>G MANE Select | NP_036335.1:p.Ala309= |