Linked Data
ClinVar Variation Id:
325333
ClinVar RCV Id:
RCV000260315
dbSNP Id:
rs886053441
gnomAD v2:
17-73940186-G-A
gnomAD v3:
17-75944105-G-A
gnomAD v4:
17-75944105-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75944105G>A , CM000679.2:g.75944105G>A | GRCh38 |
| NC_000017.10:g.73940186G>A , CM000679.1:g.73940186G>A | GRCh37 |
| NC_000017.9:g.71451781G>A | NCBI36 |
| NG_008190.1:g.40259C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301608.9:c.*2643C>T | ENSP00000301608.4:n.*2643C>T | |
| ENST00000293217.10:c.*2643C>T MANE Select | ENSP00000293217.4:n.*2643C>T | |
| ENST00000293217.9:c.*2643C>T | ENSP00000293217.4:n.*2643C>T | |
| ENST00000587927.5:c.440-892C>T | ||
| ENST00000588968.5:c.390-1193C>T | ||
| NM_001185039.1:c.*2643C>T | NP_001171968.1:n.*2643C>T | |
| NM_004035.6:c.*2643C>T | NP_004026.2:n.*2643C>T | |
| NM_007292.5:c.*2643C>T | NP_009223.2:n.*2643C>T | |
| XM_011524868.3:c.*2643C>T | XP_011523170.1:n.*2643C>T | |
| XM_011524869.3:c.*2643C>T | XP_011523171.1:n.*2643C>T | |
| NM_004035.7:c.*2643C>T MANE Select | NP_004026.2:n.*2643C>T | |
| NM_001185039.2:c.*2643C>T | NP_001171968.1:n.*2643C>T | |
| NM_007292.6:c.*2643C>T | NP_009223.2:n.*2643C>T |