Linked Data
dbSNP Id:
rs1244111501
gnomAD v2:
21-45706897-C-T
gnomAD v4:
21-44287014-C-T
COSMIC:
COSM3912235
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287014C>T , CM000683.2:g.44287014C>T | GRCh38 |
| NC_000021.8:g.45706897C>T , CM000683.1:g.45706897C>T | GRCh37 |
| NC_000021.7:g.44531325C>T | NCBI36 |
| NG_009556.1:g.6135C>T , LRG_18:g.6135C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.344C>T MANE Select | ENSP00000291582.5:p.Pro115Leu | |
| ENST00000291582.5:c.344C>T | ENSP00000291582.5:p.Pro115Leu | |
| ENST00000527919.5:n.505C>T | ||
| ENST00000530812.5:n.513C>T | ||
| NM_000383.3:c.344C>T | NP_000374.1:p.Pro115Leu | |
| XM_011529551.1:c.344C>T | XP_011527853.1:p.Pro115Leu | |
| NM_000383.4:c.344C>T MANE Select | NP_000374.1:p.Pro115Leu |