Linked Data
dbSNP Id:
rs865965255
gnomAD v2:
12-21327574-T-C
gnomAD v3:
12-21174640-T-C
gnomAD v4:
12-21174640-T-C
COSMIC:
COSM145953
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174640T>C , CM000674.2:g.21174640T>C | GRCh38 |
| NC_000012.11:g.21327574T>C , CM000674.1:g.21327574T>C | GRCh37 |
| NC_000012.10:g.21218841T>C | NCBI36 |
| NG_011745.1:g.48447T>C , LRG_1022:g.48447T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.290T>C MANE Select | ENSP00000256958.2:p.Ile97Thr | |
| ENST00000256958.2:c.290T>C | ENSP00000256958.2:p.Ile97Thr | |
| ENST00000543498.5:c.426-2136T>C | ||
| NM_006446.4:c.290T>C , LRG_1022t1:c.290T>C | NP_006437.3:p.Ile97Thr | |
| NM_006446.5:c.290T>C MANE Select | NP_006437.3:p.Ile97Thr |