Linked Data
ClinVar Variation Id:
359605
ClinVar RCV Id:
RCV000321749
dbSNP Id:
rs72655984
ExAC:
7:21611533 T / C
gnomAD v2:
7-21611533-T-C
gnomAD v3:
7-21571915-T-C
gnomAD v4:
7-21571915-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21571915T>C , CM000669.2:g.21571915T>C | GRCh38 |
| NC_000007.13:g.21611533T>C , CM000669.1:g.21611533T>C | GRCh37 |
| NC_000007.12:g.21578058T>C | NCBI36 |
| NG_012886.2:g.33701T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.1535T>C MANE Select | ENSP00000475939.1:p.Met512Thr | |
| ENST00000328843.10:c.1535T>C | ENSP00000330671.7:p.Met512Thr | |
| ENST00000409508.7:c.1535T>C | ENSP00000475939.1:p.Met512Thr | |
| ENST00000620169.4:c.1535T>C | ENSP00000481693.1:p.Met512Thr | |
| NM_001277115.1:c.1535T>C | NP_001264044.1:p.Met512Thr | |
| XR_927090.1:n.563+1411A>G | ||
| XR_001745114.1:n.2793+1411A>G | ||
| NM_001277115.2:c.1535T>C MANE Select | NP_001264044.1:p.Met512Thr |