Linked Data
ClinVar Variation Id:
883135
ClinVar RCV Id:
RCV001113320
dbSNP Id:
rs1258500103
gnomAD v2:
12-21327595-T-A
gnomAD v3:
12-21174661-T-A
gnomAD v4:
12-21174661-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174661T>A , CM000674.2:g.21174661T>A | GRCh38 |
| NC_000012.11:g.21327595T>A , CM000674.1:g.21327595T>A | GRCh37 |
| NC_000012.10:g.21218862T>A | NCBI36 |
| NG_011745.1:g.48468T>A , LRG_1022:g.48468T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.311T>A MANE Select | ENSP00000256958.2:p.Met104Lys | |
| ENST00000256958.2:c.311T>A | ENSP00000256958.2:p.Met104Lys | |
| ENST00000543498.5:c.426-2115T>A | ||
| NM_006446.4:c.311T>A , LRG_1022t1:c.311T>A | NP_006437.3:p.Met104Lys | |
| NM_006446.5:c.311T>A MANE Select | NP_006437.3:p.Met104Lys |