Linked Data
ClinVar Variation Id:
325031
ClinVar RCV Id:
RCV000338194
dbSNP Id:
rs886053383
gnomAD v2:
17-72912433-G-A
gnomAD v3:
17-74916341-G-A
gnomAD v4:
17-74916341-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74916341G>A , CM000679.2:g.74916341G>A | GRCh38 |
| NC_000017.10:g.72912433G>A , CM000679.1:g.72912433G>A | GRCh37 |
| NC_000017.9:g.70424028G>A | NCBI36 |
| NG_007882.1:g.11919C>T | |
| NG_007882.2:g.11923C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614341.5:c.*1732C>T MANE Select | ENSP00000480279.1:n.*1732C>T | |
| ENST00000614341.4:c.*1732C>T | ENSP00000480279.1:n.*1732C>T | |
| NM_001282489.2:c.*1732C>T | NP_001269418.1:n.*1732C>T | |
| NM_173477.4:c.*1732C>T | NP_775748.2:n.*1732C>T | |
| XM_011524296.1:c.*1732C>T | XP_011522598.1:n.*1732C>T | |
| XM_011524296.2:c.*1732C>T | XP_011522598.1:n.*1732C>T | |
| NM_173477.5:c.*1732C>T MANE Select | NP_775748.2:n.*1732C>T | |
| NM_001282489.3:c.*1732C>T | NP_001269418.1:n.*1732C>T |