Linked Data
ClinVar Variation Id:
21013
dbSNP Id:
rs113994169
ExAC:
17:7127006 C / T
gnomAD v2:
17-7127006-C-T
gnomAD v3:
17-7223687-C-T
gnomAD v4:
17-7223687-C-T
PubMed:
PMID:20301763
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223687C>T , CM000679.2:g.7223687C>T | GRCh38 |
| NC_000017.10:g.7127006C>T , CM000679.1:g.7127006C>T | GRCh37 |
| NC_000017.9:g.7067730C>T | NCBI36 |
| NG_007975.1:g.8854C>T | |
| NG_008391.2:g.1364G>A | |
| NG_033038.1:g.15858G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1226C>T MANE Select | ENSP00000349297.5:p.Thr409Met | |
| ENST00000322910.9:c.*1181C>T | ENSP00000325395.5:n.*1181C>T | |
| ENST00000350303.9:c.1160C>T | ENSP00000344152.5:p.Thr387Met | |
| ENST00000356839.9:c.1226C>T | ENSP00000349297.5:p.Thr409Met | |
| ENST00000542255.6:c.84C>T | ||
| ENST00000543245.6:c.1295C>T | ENSP00000438689.2:p.Thr432Met | |
| ENST00000578579.2:n.397C>T | ||
| ENST00000578711.1:n.183C>T | ||
| ENST00000578824.5:n.642C>T | ||
| ENST00000579425.5:n.250C>T | ||
| ENST00000579546.1:c.63C>T | ||
| ENST00000583850.5:n.1C>T | ||
| ENST00000583858.5:c.255C>T | ||
| ENST00000585203.6:n.434C>T | ||
| NM_000018.3:c.1226C>T | NP_000009.1:p.Thr409Met | |
| NM_001033859.2:c.1160C>T | NP_001029031.1:p.Thr387Met | |
| NM_001270447.1:c.1295C>T | NP_001257376.1:p.Thr432Met | |
| NM_001270448.1:c.998C>T | NP_001257377.1:p.Thr333Met | |
| XM_006721516.2:c.1226C>T | XP_006721579.2:p.Thr409Met | |
| XM_011523829.1:c.1226C>T | XP_011522131.1:p.Thr409Met | |
| XM_011523830.1:c.1226C>T | XP_011522132.1:p.Thr409Met | |
| XR_934021.1:n.1333C>T | ||
| XR_934022.1:n.1333C>T | ||
| XR_934023.1:n.1333C>T | ||
| XM_006721516.3:c.1226C>T | XP_006721579.2:p.Thr409Met | |
| XM_011523829.2:c.1226C>T | XP_011522131.1:p.Thr409Met | |
| XM_011523830.2:c.1226C>T | XP_011522132.1:p.Thr409Met | |
| XM_024450741.1:c.1226C>T | XP_024306509.1:p.Thr409Met | |
| XR_934021.2:n.1285C>T | ||
| XR_934022.2:n.1285C>T | ||
| XR_934023.2:n.1285C>T | ||
| NM_000018.4:c.1226C>T MANE Select | NP_000009.1:p.Thr409Met | |
| NM_001033859.3:c.1160C>T | NP_001029031.1:p.Thr387Met | |
| NM_001270447.2:c.1295C>T | NP_001257376.1:p.Thr432Met | |
| NM_001270448.2:c.998C>T | NP_001257377.1:p.Thr333Met |