Linked Data
ClinVar Variation Id:
1673603
ClinVar RCV Id:
RCV002204161
dbSNP Id:
rs772723929
ExAC:
7:128483481 C / T
gnomAD v2:
7-128483481-C-T
gnomAD v4:
7-128843427-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128843427C>T , CM000669.2:g.128843427C>T | GRCh38 |
| NC_000007.13:g.128483481C>T , CM000669.1:g.128483481C>T | GRCh37 |
| NC_000007.12:g.128270717C>T | NCBI36 |
| NG_011807.1:g.17999C>T , LRG_870:g.17999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.2661C>T MANE Select | ENSP00000327145.8:p.Pro887= | |
| ENST00000325888.12:c.2661C>T | ENSP00000327145.8:p.Pro887= | |
| ENST00000346177.6:c.2661C>T | ENSP00000344002.6:p.Pro887= | |
| NM_001127487.1:c.2661C>T | NP_001120959.1:p.Pro887= | |
| NM_001458.4:c.2661C>T , LRG_870t1:c.2661C>T | NP_001449.3:p.Pro887= | |
| NM_001127487.2:c.2661C>T | NP_001120959.1:p.Pro887= | |
| NM_001458.5:c.2661C>T MANE Select | NP_001449.3:p.Pro887= |