Linked Data
ClinVar Variation Id:
384296
ClinVar RCV Id:
RCV000430175
dbSNP Id:
rs144227832
ExAC:
20:47601317 G / A
gnomAD v2:
20-47601317-G-A
gnomAD v3:
20-48984780-G-A
gnomAD v4:
20-48984780-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.48984780G>A , CM000682.2:g.48984780G>A | GRCh38 |
| NC_000020.10:g.47601317G>A , CM000682.1:g.47601317G>A | GRCh37 |
| NC_000020.9:g.47034724G>A | NCBI36 |
| NG_011490.1:g.68043G>A | |
| NG_011490.2:g.68043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371917.5:c.2010G>A MANE Select | ENSP00000360985.4:p.Met670Ile | |
| ENST00000679436.1:c.2007G>A | ENSP00000504888.1:p.Met669Ile | |
| ENST00000679542.1:n.1567G>A | ||
| ENST00000680635.1:n.1567G>A | ||
| ENST00000680871.1:c.1858G>A | ENSP00000505042.1:n.1858G>A | |
| ENST00000681021.1:c.2010G>A | ENSP00000505972.1:p.Met670Ile | |
| ENST00000681399.1:c.*1687G>A | ENSP00000506363.1:n.*1687G>A | |
| ENST00000681656.1:c.1901G>A | ENSP00000505638.1:n.1901G>A | |
| ENST00000681885.1:c.2010G>A | ENSP00000505737.1:p.Met670Ile | |
| ENST00000371917.4:c.2010G>A | ENSP00000360985.4:p.Met670Ile | |
| NM_006420.2:c.2010G>A | NP_006411.2:p.Met670Ile | |
| XM_005260252.2:c.2007G>A | XP_005260309.1:p.Met669Ile | |
| XM_005260252.3:c.2007G>A | XP_005260309.1:p.Met669Ile | |
| NM_006420.3:c.2010G>A MANE Select | NP_006411.2:p.Met670Ile |