Linked Data
ClinVar Variation Id:
932738
ClinVar RCV Id:
RCV001200676
dbSNP Id:
rs1165915680
gnomAD v2:
17-7123485-C-T
gnomAD v4:
17-7220166-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220166C>T , CM000679.2:g.7220166C>T | GRCh38 |
| NC_000017.10:g.7123485C>T , CM000679.1:g.7123485C>T | GRCh37 |
| NC_000017.9:g.7064209C>T | NCBI36 |
| NG_007975.1:g.5333C>T | |
| NG_008391.2:g.4885G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.107C>T MANE Select | ENSP00000349297.5:p.Ala36Val | |
| ENST00000322910.9:c.*62C>T | ENSP00000325395.5:n.*62C>T | |
| ENST00000350303.9:c.107C>T | ENSP00000344152.5:p.Ala36Val | |
| ENST00000356839.9:c.107C>T | ENSP00000349297.5:p.Ala36Val | |
| ENST00000543245.6:c.176C>T | ENSP00000438689.2:p.Ala59Val | |
| ENST00000577191.5:n.184C>T | ||
| ENST00000577857.5:n.197C>T | ||
| ENST00000578269.5:n.214C>T | ||
| ENST00000578421.1:n.241C>T | ||
| ENST00000579286.5:n.214C>T | ||
| ENST00000579886.2:c.107C>T | ENSP00000463246.1:p.Ala36Val | |
| ENST00000580263.5:n.197C>T | ||
| ENST00000581562.5:n.154C>T | ||
| ENST00000582056.5:n.197C>T | ||
| ENST00000582356.5:n.232C>T | ||
| ENST00000583312.5:c.107C>T | ENSP00000467920.1:p.Ala36Val | |
| ENST00000584103.5:c.107C>T | ENSP00000465353.1:p.Ala36Val | |
| NM_000018.3:c.107C>T | NP_000009.1:p.Ala36Val | |
| NM_001033859.2:c.107C>T | NP_001029031.1:p.Ala36Val | |
| NM_001270447.1:c.176C>T | NP_001257376.1:p.Ala59Val | |
| NM_001270448.1:c.-122C>T | NP_001257377.1:n.-122C>T | |
| XM_006721516.2:c.107C>T | XP_006721579.2:p.Ala36Val | |
| XM_011523829.1:c.107C>T | XP_011522131.1:p.Ala36Val | |
| XM_011523830.1:c.107C>T | XP_011522132.1:p.Ala36Val | |
| XR_934021.1:n.214C>T | ||
| XR_934022.1:n.214C>T | ||
| XR_934023.1:n.214C>T | ||
| XM_006721516.3:c.107C>T | XP_006721579.2:p.Ala36Val | |
| XM_011523829.2:c.107C>T | XP_011522131.1:p.Ala36Val | |
| XM_011523830.2:c.107C>T | XP_011522132.1:p.Ala36Val | |
| XM_024450741.1:c.107C>T | XP_024306509.1:p.Ala36Val | |
| XR_934021.2:n.166C>T | ||
| XR_934022.2:n.166C>T | ||
| XR_934023.2:n.166C>T | ||
| NM_000018.4:c.107C>T MANE Select | NP_000009.1:p.Ala36Val | |
| NM_001033859.3:c.107C>T | NP_001029031.1:p.Ala36Val | |
| NM_001270447.2:c.176C>T | NP_001257376.1:p.Ala59Val | |
| NM_001270448.2:c.-122C>T | NP_001257377.1:n.-122C>T |