Linked Data
ClinVar Variation Id:
2939750
ClinVar RCV Id:
RCV003794916
dbSNP Id:
rs1255567659
gnomAD v2:
7-94033894-T-C
gnomAD v4:
7-94404582-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404582T>C , CM000669.2:g.94404582T>C | GRCh38 |
| NC_000007.13:g.94033894T>C , CM000669.1:g.94033894T>C | GRCh37 |
| NC_000007.12:g.93871830T>C | NCBI36 |
| NG_007405.1:g.15022T>C , LRG_2:g.15022T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.306T>C MANE Select | ENSP00000297268.6:p.Pro102= | |
| ENST00000297268.10:c.306T>C | ENSP00000297268.6:p.Pro102= | |
| ENST00000620463.1:c.300T>C | ENSP00000477719.1:p.Pro100= | |
| NM_000089.3:c.306T>C , LRG_2t1:c.306T>C | NP_000080.2:p.Pro102= | |
| NM_000089.4:c.306T>C MANE Select | NP_000080.2:p.Pro102= |