Linked Data
ClinVar Variation Id:
161782
ClinVar RCV Id:
RCV000149318
dbSNP Id:
rs193920800
gnomAD v2:
3-148873008-C-G
gnomAD v3:
3-149155221-C-G
gnomAD v4:
3-149155221-C-G
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149155221C>G , CM000665.2:g.149155221C>G | GRCh38 |
| NC_000003.11:g.148873008C>G , CM000665.1:g.148873008C>G | GRCh37 |
| NC_000003.10:g.150355698C>G | NCBI36 |
| NG_009847.1:g.30638C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296051.7:c.1509+6C>G MANE Select | ENSP00000296051.2:n.1509+6C>G | |
| ENST00000296051.6:c.1509+6C>G | ENSP00000296051.2:n.1509+6C>G | |
| ENST00000460120.5:c.1014+6C>G | ENSP00000418230.1:n.1014+6C>G | |
| NM_001308258.1:c.1014+6C>G | NP_001295187.1:n.1014+6C>G | |
| NM_032383.3:c.1509+6C>G | NP_115759.2:n.1509+6C>G | |
| NM_032383.4:c.1509+6C>G | NP_115759.2:n.1509+6C>G | |
| XM_005247834.3:c.1509+6C>G | XP_005247891.1:n.1509+6C>G | |
| XM_006713788.1:c.1509+6C>G | XP_006713851.1:n.1509+6C>G | |
| XR_924201.1:n.1624+6C>G | ||
| XM_005247834.4:c.1509+6C>G | XP_005247891.1:n.1509+6C>G | |
| XM_017007323.2:c.1509+6C>G | XP_016862812.1:n.1509+6C>G | |
| XR_001740326.2:n.1609+6C>G | ||
| XR_001740327.2:n.1609+6C>G | ||
| XR_001740328.2:n.1609+6C>G | ||
| XR_924201.3:n.1609+6C>G | ||
| NM_001308258.2:c.1014+6C>G | NP_001295187.1:n.1014+6C>G | |
| NM_032383.5:c.1509+6C>G MANE Select | NP_115759.2:n.1509+6C>G |