Linked Data
ClinVar Variation Id:
1540638
ClinVar RCV Id:
RCV002155107
dbSNP Id:
rs570340475
ExAC:
14:29237322 C / T
gnomAD v2:
14-29237322-C-T
gnomAD v3:
14-28768116-C-T
gnomAD v4:
14-28768116-C-T
COSMIC:
COSM3401281
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768116C>T , CM000676.2:g.28768116C>T | GRCh38 |
| NC_000014.8:g.29237322C>T , CM000676.1:g.29237322C>T | GRCh37 |
| NC_000014.7:g.28307073C>T | NCBI36 |
| NG_009367.1:g.6036C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706482.1:c.837C>T | ENSP00000516406.1:p.Thr279= | |
| ENST00000313071.7:c.837C>T MANE Select | ENSP00000339004.3:p.Thr279= | |
| ENST00000313071.6:c.837C>T | ENSP00000339004.3:p.Thr279= | |
| NM_005249.4:c.837C>T | NP_005240.3:p.Thr279= | |
| NM_005249.5:c.837C>T MANE Select | NP_005240.3:p.Thr279= |