Linked Data
ClinVar Variation Id:
472015
ClinVar RCV Id:
RCV000560534
dbSNP Id:
rs1418979185
gnomAD v2:
7-128483356-C-G
gnomAD v4:
7-128843302-C-G
COSMIC:
COSM1187428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128843302C>G , CM000669.2:g.128843302C>G | GRCh38 |
| NC_000007.13:g.128483356C>G , CM000669.1:g.128483356C>G | GRCh37 |
| NC_000007.12:g.128270592C>G | NCBI36 |
| NG_011807.1:g.17874C>G , LRG_870:g.17874C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.2624C>G MANE Select | ENSP00000327145.8:p.Pro875Arg | |
| ENST00000325888.12:c.2624C>G | ENSP00000327145.8:p.Pro875Arg | |
| ENST00000346177.6:c.2624C>G | ENSP00000344002.6:p.Pro875Arg | |
| NM_001127487.1:c.2624C>G | NP_001120959.1:p.Pro875Arg | |
| NM_001458.4:c.2624C>G , LRG_870t1:c.2624C>G | NP_001449.3:p.Pro875Arg | |
| NM_001127487.2:c.2624C>G | NP_001120959.1:p.Pro875Arg | |
| NM_001458.5:c.2624C>G MANE Select | NP_001449.3:p.Pro875Arg |