Linked Data
ClinVar Variation Id:
3009281
ClinVar RCV Id:
RCV003869432
dbSNP Id:
rs370072154
gnomAD v2:
14-91739002-C-A
gnomAD v4:
14-91272658-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272658C>A , CM000676.2:g.91272658C>A | GRCh38 |
| NC_000014.8:g.91739002C>A , CM000676.1:g.91739002C>A | GRCh37 |
| NC_000014.7:g.90808755C>A | NCBI36 |
| NG_033118.1:g.150187G>T | |
| NG_033118.2:g.150187G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6054G>T MANE Select | ENSP00000374507.6:p.Pro2018= | |
| ENST00000331194.8:c.1488G>T | ENSP00000330332.8:p.Pro496= | |
| ENST00000389857.10:c.6054G>T | ENSP00000374507.6:p.Pro2018= | |
| ENST00000556726.5:c.2282G>T | ||
| NM_001080414.3:c.6054G>T | NP_001073883.2:p.Pro2018= | |
| XM_011536796.1:c.5946G>T | XP_011535098.1:p.Pro1982= | |
| XM_011536796.2:c.5946G>T | XP_011535098.1:p.Pro1982= | |
| XM_017021336.1:c.3135G>T | XP_016876825.1:p.Pro1045= | |
| NM_001080414.4:c.6054G>T MANE Select | NP_001073883.2:p.Pro2018= |