Linked Data
ClinVar Variation Id:
373141
ClinVar RCV Id:
RCV000414325
dbSNP Id:
rs1057518247
gnomAD v2:
3-148930487-T-C
gnomAD v4:
3-149212700-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149212700T>C , CM000665.2:g.149212700T>C | GRCh38 |
| NC_000003.11:g.148930487T>C , CM000665.1:g.148930487T>C | GRCh37 |
| NC_000003.10:g.150413177T>C | NCBI36 |
| NG_011800.1:g.14346A>G | |
| NG_011800.2:g.14346A>G | |
| NG_011800.3:g.14346A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264613.11:c.147-2A>G MANE Select | ENSP00000264613.6:n.147-2A>G | |
| ENST00000264613.10:c.147-2A>G | ENSP00000264613.6:n.147-2A>G | |
| ENST00000455472.3:c.267-2A>G | ENSP00000426888.1:n.267-2A>G | |
| ENST00000481169.5:c.147-2A>G | ENSP00000418773.1:n.147-2A>G | |
| ENST00000490639.5:n.179-2A>G | ||
| NM_000096.3:c.147-2A>G | NP_000087.1:n.147-2A>G | |
| NR_046371.1:n.400-2A>G | ||
| XM_006713499.2:c.147-2A>G | XP_006713562.1:n.147-2A>G | |
| XM_006713500.2:c.147-2A>G | XP_006713563.1:n.147-2A>G | |
| XM_006713501.2:c.147-2A>G | XP_006713564.1:n.147-2A>G | |
| XM_006713502.2:c.147-2A>G | XP_006713565.1:n.147-2A>G | |
| XM_011512435.1:c.147-2A>G | XP_011510737.1:n.147-2A>G | |
| XR_427361.2:n.405-2A>G | ||
| XM_006713499.3:c.147-2A>G | XP_006713562.1:n.147-2A>G | |
| XM_006713500.4:c.147-2A>G | XP_006713563.1:n.147-2A>G | |
| XM_006713501.3:c.147-2A>G | XP_006713564.1:n.147-2A>G | |
| XM_011512435.2:c.147-2A>G | XP_011510737.1:n.147-2A>G | |
| XM_017005734.2:c.147-2A>G | XP_016861223.1:n.147-2A>G | |
| XM_017005735.2:c.147-2A>G | XP_016861224.1:n.147-2A>G | |
| XR_427361.3:n.363-2A>G | ||
| NM_000096.4:c.147-2A>G MANE Select | NP_000087.2:n.147-2A>G | |
| NR_046371.2:n.184-2A>G |