Linked Data
ClinVar Variation Id:
551386
ClinVar RCV Id:
RCV000666435
dbSNP Id:
rs1554749727
gnomAD v4:
9-37436781-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436781A>G , CM000671.2:g.37436781A>G | GRCh38 |
| NC_000009.11:g.37436778A>G , CM000671.1:g.37436778A>G | GRCh37 |
| NC_000009.10:g.37426778A>G | NCBI36 |
| NG_008135.1:g.19072A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.986A>G MANE Select | ENSP00000313432.6:p.Ter329Trp | |
| ENST00000318158.10:c.986A>G | ENSP00000313432.6:p.Ter329Trp | |
| ENST00000460882.5:n.1013A>G | ||
| ENST00000480596.5:n.1687A>G | ||
| ENST00000494290.1:c.*52-100A>G | ENSP00000432021.1:n.*52-100A>G | |
| ENST00000497693.1:n.4554A>G | ||
| NM_012203.1:c.986A>G | NP_036335.1:p.Ter329Trp | |
| XM_005251631.1:c.665A>G | XP_005251688.1:p.Ter222Trp | |
| XM_011518073.1:c.584A>G | XP_011516375.1:p.Ter195Trp | |
| XM_017015320.2:c.946-630A>G | XP_016870809.1:n.946-630A>G | |
| XM_017015321.2:c.866-630A>G | XP_016870810.1:n.866-630A>G | |
| XM_017015323.2:c.544-630A>G | XP_016870812.1:n.544-630A>G | |
| XM_024447716.1:c.1219-630A>G | XP_024303484.1:n.1219-630A>G | |
| XM_024447717.1:c.1139-630A>G | XP_024303485.1:n.1139-630A>G | |
| XR_002956828.1:n.1234-630A>G | ||
| XR_002956829.1:n.1154-630A>G | ||
| XR_002956830.1:n.2406A>G | ||
| XR_002956831.1:n.2081A>G | ||
| XR_002956832.1:n.1405A>G | ||
| NM_012203.2:c.986A>G MANE Select | NP_036335.1:p.Ter329Trp |