Linked Data
ClinVar Variation Id:
472031
ClinVar RCV Id:
RCV000547281
dbSNP Id:
rs369078760
ExAC:
7:128484213 A / G
gnomAD v2:
7-128484213-A-G
gnomAD v3:
7-128844159-A-G
gnomAD v4:
7-128844159-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128844159A>G , CM000669.2:g.128844159A>G | GRCh38 |
| NC_000007.13:g.128484213A>G , CM000669.1:g.128484213A>G | GRCh37 |
| NC_000007.12:g.128271449A>G | NCBI36 |
| NG_011807.1:g.18731A>G , LRG_870:g.18731A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.3085A>G MANE Select | ENSP00000327145.8:p.Met1029Val | |
| ENST00000325888.12:c.3085A>G | ENSP00000327145.8:p.Met1029Val | |
| ENST00000346177.6:c.3085A>G | ENSP00000344002.6:p.Met1029Val | |
| NM_001127487.1:c.3085A>G | NP_001120959.1:p.Met1029Val | |
| NM_001458.4:c.3085A>G , LRG_870t1:c.3085A>G | NP_001449.3:p.Met1029Val | |
| NM_001127487.2:c.3085A>G | NP_001120959.1:p.Met1029Val | |
| NM_001458.5:c.3085A>G MANE Select | NP_001449.3:p.Met1029Val |