Linked Data
ClinVar Variation Id:
166641
dbSNP Id:
rs727503791
ExAC:
17:7124917 G / A
gnomAD v2:
17-7124917-G-A
gnomAD v3:
17-7221598-G-A
gnomAD v4:
17-7221598-G-A
ERepo:
CA295584/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221598G>A , CM000679.2:g.7221598G>A | GRCh38 |
| NC_000017.10:g.7124917G>A , CM000679.1:g.7124917G>A | GRCh37 |
| NC_000017.9:g.7065641G>A | NCBI36 |
| NG_007975.1:g.6765G>A | |
| NG_008391.2:g.3453C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.538G>A MANE Select | ENSP00000349297.5:p.Ala180Thr | |
| ENST00000322910.9:c.*493G>A | ENSP00000325395.5:n.*493G>A | |
| ENST00000350303.9:c.472G>A | ENSP00000344152.5:p.Ala158Thr | |
| ENST00000356839.9:c.538G>A | ENSP00000349297.5:p.Ala180Thr | |
| ENST00000543245.6:c.607G>A | ENSP00000438689.2:p.Ala203Thr | |
| ENST00000577191.5:n.615G>A | ||
| ENST00000577433.5:n.746G>A | ||
| ENST00000577857.5:n.354G>A | ||
| ENST00000579286.5:n.719G>A | ||
| ENST00000579886.2:c.376G>A | ENSP00000463246.1:p.Ala126Thr | |
| ENST00000580365.1:n.269G>A | ||
| ENST00000581378.5:c.256G>A | ||
| ENST00000581562.5:n.525-354G>A | ||
| ENST00000582166.1:n.519G>A | ||
| ENST00000583312.5:c.538G>A | ENSP00000467920.1:p.Ala180Thr | |
| ENST00000583760.1:n.320G>A | ||
| NM_000018.3:c.538G>A | NP_000009.1:p.Ala180Thr | |
| NM_001033859.2:c.472G>A | NP_001029031.1:p.Ala158Thr | |
| NM_001270447.1:c.607G>A | NP_001257376.1:p.Ala203Thr | |
| NM_001270448.1:c.310G>A | NP_001257377.1:p.Ala104Thr | |
| XM_006721516.2:c.538G>A | XP_006721579.2:p.Ala180Thr | |
| XM_011523829.1:c.538G>A | XP_011522131.1:p.Ala180Thr | |
| XM_011523830.1:c.538G>A | XP_011522132.1:p.Ala180Thr | |
| XR_934021.1:n.645G>A | ||
| XR_934022.1:n.645G>A | ||
| XR_934023.1:n.645G>A | ||
| XM_006721516.3:c.538G>A | XP_006721579.2:p.Ala180Thr | |
| XM_011523829.2:c.538G>A | XP_011522131.1:p.Ala180Thr | |
| XM_011523830.2:c.538G>A | XP_011522132.1:p.Ala180Thr | |
| XM_024450741.1:c.538G>A | XP_024306509.1:p.Ala180Thr | |
| XR_934021.2:n.597G>A | ||
| XR_934022.2:n.597G>A | ||
| XR_934023.2:n.597G>A | ||
| NM_000018.4:c.538G>A MANE Select | NP_000009.1:p.Ala180Thr | |
| NM_001033859.3:c.472G>A | NP_001029031.1:p.Ala158Thr | |
| NM_001270447.2:c.607G>A | NP_001257376.1:p.Ala203Thr | |
| NM_001270448.2:c.310G>A | NP_001257377.1:p.Ala104Thr |