Linked Data
ClinVar Variation Id:
1260669
ClinVar RCV Id:
RCV001669486
dbSNP Id:
rs2361689
ExAC:
7:155255332 T / C
gnomAD v2:
7-155255332-T-C
gnomAD v3:
7-155462637-T-C
gnomAD v4:
7-155462637-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155462637T>C , CM000669.2:g.155462637T>C | GRCh38 |
| NC_000007.13:g.155255332T>C , CM000669.1:g.155255332T>C | GRCh37 |
| NC_000007.12:g.154948093T>C | NCBI36 |
| NG_007124.1:g.10918T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297375.4:c.952T>C MANE Select | ENSP00000297375.4:p.Leu318= | |
| NM_001427.3:c.952T>C | NP_001418.2:p.Leu318= | |
| NM_001427.4:c.952T>C MANE Select | NP_001418.2:p.Leu318= |