Linked Data
ClinVar Variation Id:
512613
ClinVar RCV Id:
RCV000605635
dbSNP Id:
rs1311321396
gnomAD v2:
14-29237712-G-T
gnomAD v4:
14-28768506-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768506G>T , CM000676.2:g.28768506G>T | GRCh38 |
| NC_000014.8:g.29237712G>T , CM000676.1:g.29237712G>T | GRCh37 |
| NC_000014.7:g.28307463G>T | NCBI36 |
| NG_009367.1:g.6426G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.1227G>T | ENSP00000516406.1:p.Leu409= | |
| ENST00000313071.7:c.1227G>T MANE Select | ENSP00000339004.3:p.Leu409= | |
| ENST00000313071.6:c.1227G>T | ENSP00000339004.3:p.Leu409= | |
| NM_005249.4:c.1227G>T | NP_005240.3:p.Leu409= | |
| NM_005249.5:c.1227G>T MANE Select | NP_005240.3:p.Leu409= |