Linked Data
ClinVar Variation Id:
517215
ClinVar RCV Id:
RCV000610102
dbSNP Id:
rs749521853
ExAC:
2:26706387 G / A
gnomAD v2:
2-26706387-G-A
gnomAD v3:
2-26483519-G-A
gnomAD v4:
2-26483519-G-A
COSMIC:
COSM1019413
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26483519G>A , CM000664.2:g.26483519G>A | GRCh38 |
| NC_000002.11:g.26706387G>A , CM000664.1:g.26706387G>A | GRCh37 |
| NC_000002.10:g.26559891G>A | NCBI36 |
| NG_009937.1:g.80180C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.1335C>T MANE Select | ENSP00000272371.2:p.Ile445= | |
| ENST00000272371.6:c.1335C>T | ENSP00000272371.2:p.Ile445= | |
| ENST00000403946.7:c.1335C>T | ENSP00000385255.3:p.Ile445= | |
| NM_001287489.1:c.1335C>T | NP_001274418.1:p.Ile445= | |
| NM_194248.2:c.1335C>T | NP_919224.1:p.Ile445= | |
| XM_005264644.2:c.1380C>T | XP_005264701.1:p.Ile460= | |
| XM_011533185.1:c.1380C>T | XP_011531487.1:p.Ile460= | |
| XM_017005338.1:c.1335C>T | XP_016860827.1:p.Ile445= | |
| NM_001287489.2:c.1335C>T | NP_001274418.1:p.Ile445= | |
| NM_194248.3:c.1335C>T MANE Select | NP_919224.1:p.Ile445= |