Linked Data
ClinVar Variation Id:
1040294
ClinVar RCV Id:
RCV001343906
dbSNP Id:
rs767618201
ExAC:
5:149360972 C / A
gnomAD v2:
5-149360972-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981409C>A , CM000667.2:g.149981409C>A | GRCh38 |
| NC_000005.9:g.149360972C>A , CM000667.1:g.149360972C>A | GRCh37 |
| NC_000005.8:g.149341165C>A | NCBI36 |
| NG_007147.2:g.22527C>A , LRG_684:g.22527C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1816C>A MANE Select | ENSP00000286298.4:p.Pro606Thr | |
| ENST00000286298.4:c.1816C>A | ENSP00000286298.4:p.Pro606Thr | |
| ENST00000503336.1:c.372+3058C>A | ENSP00000426053.1:n.372+3058C>A | |
| NM_000112.3:c.1816C>A , LRG_684t1:c.1816C>A | NP_000103.2:p.Pro606Thr | |
| XM_017009191.2:c.1816C>A | XP_016864680.1:p.Pro606Thr | |
| NM_000112.4:c.1816C>A MANE Select | NP_000103.2:p.Pro606Thr |