Linked Data
ClinVar Variation Id:
2444695
ClinVar RCV Id:
RCV003154143
gnomAD v4:
14-28768115-C-A
COSMIC:
COSM320483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768115C>A , CM000676.2:g.28768115C>A | GRCh38 |
| NC_000014.8:g.29237321C>A , CM000676.1:g.29237321C>A | GRCh37 |
| NC_000014.7:g.28307072C>A | NCBI36 |
| NG_009367.1:g.6035C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706482.1:c.836C>A | ENSP00000516406.1:p.Thr279Asn | |
| ENST00000313071.7:c.836C>A MANE Select | ENSP00000339004.3:p.Thr279Asn | |
| ENST00000313071.6:c.836C>A | ENSP00000339004.3:p.Thr279Asn | |
| NM_005249.4:c.836C>A | NP_005240.3:p.Thr279Asn | |
| NM_005249.5:c.836C>A MANE Select | NP_005240.3:p.Thr279Asn |