Linked Data
ClinVar Variation Id:
2388732
ClinVar RCV Id:
RCV004222839
dbSNP Id:
rs931184118
gnomAD v2:
7-143884258-T-C
gnomAD v3:
7-144187165-T-C
gnomAD v4:
7-144187165-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144187165T>C , CM000669.2:g.144187165T>C | GRCh38 |
| NC_000007.13:g.143884258T>C , CM000669.1:g.143884258T>C | GRCh37 |
| NC_000007.12:g.143515191T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688754.1:c.1219A>G | ENSP00000510684.1:p.Met407Val | |
| ENST00000378115.3:c.1219A>G MANE Select | ENSP00000367355.3:p.Met407Val | |
| ENST00000378115.2:c.1219A>G | ENSP00000367355.2:p.Met407Val | |
| NM_001003702.2:c.1219A>G | NP_001003702.2:p.Met407Val | |
| NM_001003702.3:c.1219A>G MANE Select | NP_001003702.2:p.Met407Val | |
| NM_001368318.1:c.1219A>G | NP_001355247.1:p.Met407Val |