Linked Data
ClinVar Variation Id:
684342
ClinVar RCV Id:
RCV000844555
dbSNP Id:
rs10012946
gnomAD v2:
4-6293350-T-C
gnomAD v3:
4-6291623-T-C
gnomAD v4:
4-6291623-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291623T>C , CM000666.2:g.6291623T>C | GRCh38 |
| NC_000004.11:g.6293350T>C , CM000666.1:g.6293350T>C | GRCh37 |
| NC_000004.10:g.6344251T>C | NCBI36 |
| NG_011700.1:g.26774T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682275.1:c.631+256T>C | ENSP00000507852.1:n.631+256T>C | |
| ENST00000683395.1:c.608+269T>C | ||
| ENST00000684087.1:c.631+256T>C | ENSP00000506978.1:n.631+256T>C | |
| ENST00000684700.1:c.*182T>C | ENSP00000507806.1:n.*182T>C | |
| ENST00000506362.2:c.382+256T>C | ENSP00000424103.2:n.382+256T>C | |
| ENST00000673642.1:c.430+256T>C | ENSP00000501242.1:n.430+256T>C | |
| ENST00000673991.1:c.631+256T>C | ENSP00000501033.1:n.631+256T>C | |
| ENST00000226760.5:c.631+256T>C MANE Select | ENSP00000226760.1:n.631+256T>C | |
| ENST00000503569.5:c.631+256T>C | ENSP00000423337.1:n.631+256T>C | |
| ENST00000506362.1:c.228+256T>C | ||
| ENST00000507765.1:n.816+256T>C | ||
| NM_001145853.1:c.631+256T>C | NP_001139325.1:n.631+256T>C | |
| NM_006005.3:c.631+256T>C MANE Select | NP_005996.2:n.631+256T>C | |
| XM_017008586.1:c.640+256T>C | XP_016864075.1:n.640+256T>C |