Linked Data
ClinVar Variation Id:
1554460
ClinVar RCV Id:
RCV002199633
dbSNP Id:
rs1345014390
gnomAD v2:
2-73799384-T-C
gnomAD v3:
2-73572257-T-C
gnomAD v4:
2-73572257-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572257T>C , CM000664.2:g.73572257T>C | GRCh38 |
| NC_000002.11:g.73799384T>C , CM000664.1:g.73799384T>C | GRCh37 |
| NC_000002.10:g.73652892T>C | NCBI36 |
| NG_011690.1:g.191505T>C , LRG_741:g.191505T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10004-5T>C | ENSP00000507671.1:n.10004-5T>C | |
| ENST00000682801.1:c.10004-5T>C | ENSP00000507862.1:n.10004-5T>C | |
| ENST00000682859.1:c.10004-5T>C | ENSP00000508222.1:n.10004-5T>C | |
| ENST00000683791.1:c.3090-5T>C | ||
| ENST00000684460.1:c.7285-5T>C | ||
| ENST00000684548.1:c.10004-5T>C | ENSP00000507421.1:n.10004-5T>C | |
| ENST00000684590.1:c.4451-5T>C | ENSP00000507376.1:n.4451-5T>C | |
| ENST00000684656.1:c.7330-5T>C | ||
| ENST00000613296.6:c.10385-5T>C MANE Select | ENSP00000482968.1:n.10385-5T>C | |
| ENST00000651057.1:c.539-5T>C | ENSP00000498504.1:n.539-5T>C | |
| ENST00000651434.1:c.1741-5T>C | ||
| ENST00000652487.1:c.1482-5T>C | ||
| ENST00000423048.5:c.3876-5T>C | ENSP00000399833.1:n.3876-5T>C | |
| ENST00000484298.5:c.10259-5T>C | ENSP00000478155.1:n.10259-5T>C | |
| ENST00000613296.4:c.10385-5T>C | ENSP00000482968.1:n.10385-5T>C | |
| ENST00000614410.4:c.10385-5T>C | ENSP00000479094.1:n.10385-5T>C | |
| ENST00000620466.4:n.4188-5T>C | ||
| NM_015120.4:c.10388-5T>C , LRG_741t1:c.10388-5T>C | NP_055935.4:n.10388-5T>C | |
| NM_001378454.1:c.10385-5T>C MANE Select | NP_001365383.1:n.10385-5T>C |