Linked Data
ClinVar Variation Id:
30783
dbSNP Id:
rs144938364
ExAC:
13:25479714 G / A
gnomAD v2:
13-25479714-G-A
gnomAD v3:
13-24905576-G-A
gnomAD v4:
13-24905576-G-A
PubMed:
PMID:20978018
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24905576G>A , CM000675.2:g.24905576G>A | GRCh38 |
| NC_000013.10:g.25479714G>A , CM000675.1:g.25479714G>A | GRCh37 |
| NC_000013.9:g.24377714G>A | NCBI36 |
| NG_009165.2:g.22372C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381884.9:c.2462C>T MANE Select | ENSP00000371308.4:p.Thr821Met | |
| ENST00000545981.6:c.2462C>T | ENSP00000441090.2:p.Thr821Met | |
| ENST00000381884.8:c.2462C>T | ENSP00000371308.4:p.Thr821Met | |
| ENST00000545981.5:c.2462C>T | ENSP00000441090.2:p.Thr821Met | |
| ENST00000616936.4:c.2462C>T | ENSP00000477511.1:p.Thr821Met | |
| NM_018451.4:c.2462C>T | NP_060921.3:p.Thr821Met | |
| NR_047594.1:n.2657C>T | ||
| NR_047595.1:n.2657C>T | ||
| XM_011535149.1:c.2462C>T | XP_011533451.1:p.Thr821Met | |
| XM_011535150.1:c.2462C>T | XP_011533452.1:p.Thr821Met | |
| XM_011535151.1:c.2462C>T | XP_011533453.1:p.Thr821Met | |
| XR_941627.1:n.2657C>T | ||
| XR_941628.1:n.2657C>T | ||
| XM_011535149.2:c.2462C>T | XP_011533451.1:p.Thr821Met | |
| XM_011535150.2:c.2462C>T | XP_011533452.1:p.Thr821Met | |
| XM_017020673.1:c.2462C>T | XP_016876162.1:p.Thr821Met | |
| NM_018451.5:c.2462C>T MANE Select | NP_060921.3:p.Thr821Met | |
| NR_047594.2:n.2629C>T | ||
| NR_047595.2:n.2629C>T |