Linked Data
ClinVar Variation Id:
858025
ClinVar RCV Id:
RCV001063820
dbSNP Id:
rs1382262076
gnomAD v2:
17-7124885-T-C
gnomAD v4:
17-7221566-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221566T>C , CM000679.2:g.7221566T>C | GRCh38 |
| NC_000017.10:g.7124885T>C , CM000679.1:g.7124885T>C | GRCh37 |
| NC_000017.9:g.7065609T>C | NCBI36 |
| NG_007975.1:g.6733T>C | |
| NG_008391.2:g.3485A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.506T>C MANE Select | ENSP00000349297.5:p.Met169Thr | |
| ENST00000322910.9:c.*461T>C | ENSP00000325395.5:n.*461T>C | |
| ENST00000350303.9:c.440T>C | ENSP00000344152.5:p.Met147Thr | |
| ENST00000356839.9:c.506T>C | ENSP00000349297.5:p.Met169Thr | |
| ENST00000543245.6:c.575T>C | ENSP00000438689.2:p.Met192Thr | |
| ENST00000577191.5:n.583T>C | ||
| ENST00000577433.5:n.714T>C | ||
| ENST00000577857.5:n.322T>C | ||
| ENST00000579286.5:n.687T>C | ||
| ENST00000579886.2:c.344T>C | ENSP00000463246.1:p.Met115Thr | |
| ENST00000580365.1:n.237T>C | ||
| ENST00000581378.5:c.224T>C | ||
| ENST00000581562.5:n.525-386T>C | ||
| ENST00000582166.1:n.487T>C | ||
| ENST00000583312.5:c.506T>C | ENSP00000467920.1:p.Met169Thr | |
| ENST00000583760.1:n.288T>C | ||
| NM_000018.3:c.506T>C | NP_000009.1:p.Met169Thr | |
| NM_001033859.2:c.440T>C | NP_001029031.1:p.Met147Thr | |
| NM_001270447.1:c.575T>C | NP_001257376.1:p.Met192Thr | |
| NM_001270448.1:c.278T>C | NP_001257377.1:p.Met93Thr | |
| XM_006721516.2:c.506T>C | XP_006721579.2:p.Met169Thr | |
| XM_011523829.1:c.506T>C | XP_011522131.1:p.Met169Thr | |
| XM_011523830.1:c.506T>C | XP_011522132.1:p.Met169Thr | |
| XR_934021.1:n.613T>C | ||
| XR_934022.1:n.613T>C | ||
| XR_934023.1:n.613T>C | ||
| XM_006721516.3:c.506T>C | XP_006721579.2:p.Met169Thr | |
| XM_011523829.2:c.506T>C | XP_011522131.1:p.Met169Thr | |
| XM_011523830.2:c.506T>C | XP_011522132.1:p.Met169Thr | |
| XM_024450741.1:c.506T>C | XP_024306509.1:p.Met169Thr | |
| XR_934021.2:n.565T>C | ||
| XR_934022.2:n.565T>C | ||
| XR_934023.2:n.565T>C | ||
| NM_000018.4:c.506T>C MANE Select | NP_000009.1:p.Met169Thr | |
| NM_001033859.3:c.440T>C | NP_001029031.1:p.Met147Thr | |
| NM_001270447.2:c.575T>C | NP_001257376.1:p.Met192Thr | |
| NM_001270448.2:c.278T>C | NP_001257377.1:p.Met93Thr |