Linked Data
ClinVar Variation Id:
2507151
ClinVar RCV Id:
RCV003239042
dbSNP Id:
rs1481974602
gnomAD v3:
2-5692801-T-C
gnomAD v4:
2-5692801-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.5692801T>C , CM000664.2:g.5692801T>C | GRCh38 |
| NC_000002.11:g.5832933T>C , CM000664.1:g.5832933T>C | GRCh37 |
| NC_000002.10:g.5750384T>C | NCBI36 |
| NG_050751.1:g.5135T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322002.5:c.80T>C MANE Select | ENSP00000322568.3:p.Met27Thr | |
| ENST00000322002.4:c.80T>C | ENSP00000322568.3:p.Met27Thr | |
| NM_003108.3:c.80T>C | NP_003099.1:p.Met27Thr | |
| NM_003108.4:c.80T>C MANE Select | NP_003099.1:p.Met27Thr |