Linked Data
ClinVar Variation Id:
204241
dbSNP Id:
rs180177319
gnomAD v4:
9-37424843-A-G
PubMed:
PMID:14635115
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37424843A>G , CM000671.2:g.37424843A>G | GRCh38 |
| NC_000009.11:g.37424840A>G , CM000671.1:g.37424840A>G | GRCh37 |
| NC_000009.10:g.37414840A>G | NCBI36 |
| NG_008135.1:g.7134A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.84-2A>G MANE Select | ENSP00000313432.6:n.84-2A>G | |
| ENST00000318158.10:c.84-2A>G | ENSP00000313432.6:n.84-2A>G | |
| ENST00000377824.8:n.121-2A>G | ||
| ENST00000460882.5:n.111-2A>G | ||
| ENST00000487399.5:n.93-2A>G | ||
| ENST00000491488.5:n.109+2010A>G | ||
| ENST00000493368.5:n.141-2A>G | ||
| ENST00000607784.1:c.84-2A>G | ENSP00000475569.1:n.84-2A>G | |
| NM_012203.1:c.84-2A>G | NP_036335.1:n.84-2A>G | |
| XM_005251631.1:c.83+2010A>G | XP_005251688.1:n.83+2010A>G | |
| XM_011518073.1:c.-679-2A>G | XP_011516375.1:n.-679-2A>G | |
| XR_929374.1:n.169-2A>G | ||
| XM_017015320.2:c.84-2A>G | XP_016870809.1:n.84-2A>G | |
| XM_017015321.2:c.84-2A>G | XP_016870810.1:n.84-2A>G | |
| XM_017015323.2:c.-679-2A>G | XP_016870812.1:n.-679-2A>G | |
| XM_024447716.1:c.357-2A>G | XP_024303484.1:n.357-2A>G | |
| XM_024447717.1:c.357-2A>G | XP_024303485.1:n.357-2A>G | |
| XR_002956828.1:n.372-2A>G | ||
| XR_002956829.1:n.372-2A>G | ||
| XR_002956830.1:n.143-2A>G | ||
| XR_002956831.1:n.138+2010A>G | ||
| XR_002956832.1:n.143-2A>G | ||
| NM_012203.2:c.84-2A>G MANE Select | NP_036335.1:n.84-2A>G |