Linked Data
ClinVar Variation Id:
204244
dbSNP Id:
rs180177317
ExAC:
9:37432004 G / A
gnomAD v2:
9-37432004-G-A
gnomAD v4:
9-37432007-G-A
PubMed:
PMID:11030416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37432007G>A , CM000671.2:g.37432007G>A | GRCh38 |
| NC_000009.11:g.37432004G>A , CM000671.1:g.37432004G>A | GRCh37 |
| NC_000009.10:g.37422004G>A | NCBI36 |
| NG_008135.1:g.14298G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.735-1G>A MANE Select | ENSP00000313432.6:n.735-1G>A | |
| ENST00000318158.10:c.735-1G>A | ENSP00000313432.6:n.735-1G>A | |
| ENST00000460882.5:n.762-1G>A | ||
| ENST00000480596.5:n.1436-1G>A | ||
| ENST00000482603.1:n.188-1G>A | ||
| ENST00000491488.5:n.440-1G>A | ||
| ENST00000494290.1:c.*51+856G>A | ENSP00000432021.1:n.*51+856G>A | |
| ENST00000497693.1:n.4302G>A | ||
| ENST00000607784.1:c.735-1G>A | ENSP00000475569.1:n.735-1G>A | |
| NM_012203.1:c.735-1G>A | NP_036335.1:n.735-1G>A | |
| XM_005251631.1:c.414-1G>A | XP_005251688.1:n.414-1G>A | |
| XM_011518073.1:c.333-1G>A | XP_011516375.1:n.333-1G>A | |
| XM_017015320.2:c.735-1G>A | XP_016870809.1:n.735-1G>A | |
| XM_017015321.2:c.735-1G>A | XP_016870810.1:n.735-1G>A | |
| XM_017015323.2:c.333-1G>A | XP_016870812.1:n.333-1G>A | |
| XM_024447716.1:c.1008-1G>A | XP_024303484.1:n.1008-1G>A | |
| XM_024447717.1:c.1008-1G>A | XP_024303485.1:n.1008-1G>A | |
| XR_002956828.1:n.1023-1G>A | ||
| XR_002956829.1:n.1023-1G>A | ||
| XR_002956830.1:n.2154G>A | ||
| XR_002956831.1:n.1829G>A | ||
| XR_002956832.1:n.1154-1G>A | ||
| NM_012203.2:c.735-1G>A MANE Select | NP_036335.1:n.735-1G>A |