Linked Data
ClinVar Variation Id:
1154685
ClinVar RCV Id:
RCV001496797
dbSNP Id:
rs1318078788
gnomAD v2:
14-29237715-C-T
gnomAD v3:
14-28768509-C-T
gnomAD v4:
14-28768509-C-T
COSMIC:
COSM281215
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768509C>T , CM000676.2:g.28768509C>T | GRCh38 |
| NC_000014.8:g.29237715C>T , CM000676.1:g.29237715C>T | GRCh37 |
| NC_000014.7:g.28307466C>T | NCBI36 |
| NG_009367.1:g.6429C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.1230C>T | ENSP00000516406.1:p.Leu410= | |
| ENST00000313071.7:c.1230C>T MANE Select | ENSP00000339004.3:p.Leu410= | |
| ENST00000313071.6:c.1230C>T | ENSP00000339004.3:p.Leu410= | |
| NM_005249.4:c.1230C>T | NP_005240.3:p.Leu410= | |
| NM_005249.5:c.1230C>T MANE Select | NP_005240.3:p.Leu410= |