Linked Data
ClinVar Variation Id:
437999
dbSNP Id:
rs1554085478
gnomAD v4:
5-138827621-C-T
COSMIC:
COSM482013
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138827621C>T , CM000667.2:g.138827621C>T | GRCh38 |
| NC_000005.9:g.138163310C>T , CM000667.1:g.138163310C>T | GRCh37 |
| NC_000005.8:g.138191209C>T | NCBI36 |
| NG_047029.1:g.79226C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302763.12:c.965C>T MANE Select | ENSP00000304669.7:p.Ser322Leu | |
| ENST00000302763.11:c.965C>T | ENSP00000304669.7:p.Ser322Leu | |
| ENST00000518825.5:c.965C>T | ENSP00000427821.1:p.Ser322Leu | |
| ENST00000521724.5:c.*655C>T | ENSP00000431033.1:n.*655C>T | |
| ENST00000522730.1:n.139C>T | ||
| ENST00000523275.5:c.230C>T | ENSP00000429142.1:p.Ser77Leu | |
| ENST00000627109.2:c.965C>T | ENSP00000486200.1:p.Ser322Leu | |
| NM_001290307.1:c.965C>T | NP_001277236.1:p.Ser322Leu | |
| NM_001290309.1:c.656C>T | NP_001277238.1:p.Ser219Leu | |
| NM_001290310.1:c.596C>T | NP_001277239.1:p.Ser199Leu | |
| NM_001903.3:c.965C>T | NP_001894.2:p.Ser322Leu | |
| XM_006714536.2:c.965C>T | XP_006714599.1:p.Ser322Leu | |
| XM_011543172.1:c.965C>T | XP_011541474.1:p.Ser322Leu | |
| NM_001290307.2:c.965C>T | NP_001277236.1:p.Ser322Leu | |
| NM_001290309.2:c.656C>T | NP_001277238.1:p.Ser219Leu | |
| NM_001290310.2:c.596C>T | NP_001277239.1:p.Ser199Leu | |
| NM_001323982.1:c.965C>T | NP_001310911.1:p.Ser322Leu | |
| NM_001323983.1:c.965C>T | NP_001310912.1:p.Ser322Leu | |
| NM_001323984.1:c.965C>T | NP_001310913.1:p.Ser322Leu | |
| NM_001323985.1:c.965C>T | NP_001310914.1:p.Ser322Leu | |
| NM_001323986.1:c.965C>T | NP_001310915.1:p.Ser322Leu | |
| NM_001903.4:c.965C>T | NP_001894.2:p.Ser322Leu | |
| NM_001903.5:c.965C>T MANE Select | NP_001894.2:p.Ser322Leu | |
| NM_001290309.3:c.656C>T | NP_001277238.1:p.Ser219Leu | |
| NM_001290310.3:c.596C>T | NP_001277239.1:p.Ser199Leu | |
| NM_001323982.2:c.965C>T | NP_001310911.1:p.Ser322Leu | |
| NM_001323984.2:c.965C>T | NP_001310913.1:p.Ser322Leu | |
| NM_001323985.2:c.965C>T | NP_001310914.1:p.Ser322Leu | |
| NM_001323986.2:c.965C>T | NP_001310915.1:p.Ser322Leu | |
| NM_001290307.3:c.965C>T | NP_001277236.1:p.Ser322Leu |