Linked Data
dbSNP Id:
rs752609611
ExAC:
17:7126986 T / C
gnomAD v2:
17-7126986-T-C
gnomAD v4:
17-7223667-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223667T>C , CM000679.2:g.7223667T>C | GRCh38 |
| NC_000017.10:g.7126986T>C , CM000679.1:g.7126986T>C | GRCh37 |
| NC_000017.9:g.7067710T>C | NCBI36 |
| NG_007975.1:g.8834T>C | |
| NG_008391.2:g.1384A>G | |
| NG_033038.1:g.15878A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1206T>C MANE Select | ENSP00000349297.5:p.Ala402= | |
| ENST00000322910.9:c.*1161T>C | ENSP00000325395.5:n.*1161T>C | |
| ENST00000350303.9:c.1140T>C | ENSP00000344152.5:p.Ala380= | |
| ENST00000356839.9:c.1206T>C | ENSP00000349297.5:p.Ala402= | |
| ENST00000542255.6:c.64T>C | ||
| ENST00000543245.6:c.1275T>C | ENSP00000438689.2:p.Ala425= | |
| ENST00000578579.2:n.377T>C | ||
| ENST00000578711.1:n.163T>C | ||
| ENST00000578824.5:n.622T>C | ||
| ENST00000579425.5:n.230T>C | ||
| ENST00000579546.1:c.43T>C | ||
| ENST00000583858.5:c.235T>C | ||
| ENST00000585203.6:n.414T>C | ||
| NM_000018.3:c.1206T>C | NP_000009.1:p.Ala402= | |
| NM_001033859.2:c.1140T>C | NP_001029031.1:p.Ala380= | |
| NM_001270447.1:c.1275T>C | NP_001257376.1:p.Ala425= | |
| NM_001270448.1:c.978T>C | NP_001257377.1:p.Ala326= | |
| XM_006721516.2:c.1206T>C | XP_006721579.2:p.Ala402= | |
| XM_011523829.1:c.1206T>C | XP_011522131.1:p.Ala402= | |
| XM_011523830.1:c.1206T>C | XP_011522132.1:p.Ala402= | |
| XR_934021.1:n.1313T>C | ||
| XR_934022.1:n.1313T>C | ||
| XR_934023.1:n.1313T>C | ||
| XM_006721516.3:c.1206T>C | XP_006721579.2:p.Ala402= | |
| XM_011523829.2:c.1206T>C | XP_011522131.1:p.Ala402= | |
| XM_011523830.2:c.1206T>C | XP_011522132.1:p.Ala402= | |
| XM_024450741.1:c.1206T>C | XP_024306509.1:p.Ala402= | |
| XR_934021.2:n.1265T>C | ||
| XR_934022.2:n.1265T>C | ||
| XR_934023.2:n.1265T>C | ||
| NM_000018.4:c.1206T>C MANE Select | NP_000009.1:p.Ala402= | |
| NM_001033859.3:c.1140T>C | NP_001029031.1:p.Ala380= | |
| NM_001270447.2:c.1275T>C | NP_001257376.1:p.Ala425= | |
| NM_001270448.2:c.978T>C | NP_001257377.1:p.Ala326= |