Linked Data
ClinVar Variation Id:
2866579
ClinVar RCV Id:
RCV003600069
dbSNP Id:
rs1460278489
gnomAD v3:
17-7220638-G-C
gnomAD v4:
17-7220638-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220638G>C , CM000679.2:g.7220638G>C | GRCh38 |
| NC_000017.10:g.7123957G>C , CM000679.1:g.7123957G>C | GRCh37 |
| NC_000017.9:g.7064681G>C | NCBI36 |
| NG_007975.1:g.5805G>C | |
| NG_008391.2:g.4413C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.239G>C MANE Select | ENSP00000349297.5:p.Gly80Ala | |
| ENST00000322910.9:c.*194G>C | ENSP00000325395.5:n.*194G>C | |
| ENST00000350303.9:c.173G>C | ENSP00000344152.5:p.Gly58Ala | |
| ENST00000356839.9:c.239G>C | ENSP00000349297.5:p.Gly80Ala | |
| ENST00000543245.6:c.308G>C | ENSP00000438689.2:p.Gly103Ala | |
| ENST00000577191.5:n.316G>C | ||
| ENST00000577433.5:n.447G>C | ||
| ENST00000577857.5:n.229-128G>C | ||
| ENST00000578269.5:n.686G>C | ||
| ENST00000578421.1:n.447G>C | ||
| ENST00000579286.5:n.420G>C | ||
| ENST00000579886.2:c.201+112G>C | ENSP00000463246.1:n.201+112G>C | |
| ENST00000580263.5:n.403G>C | ||
| ENST00000581562.5:n.286G>C | ||
| ENST00000582056.5:n.329G>C | ||
| ENST00000582166.1:n.127G>C | ||
| ENST00000582356.5:n.438G>C | ||
| ENST00000583312.5:c.239G>C | ENSP00000467920.1:p.Gly80Ala | |
| ENST00000584103.5:c.239G>C | ENSP00000465353.1:p.Gly80Ala | |
| NM_000018.3:c.239G>C | NP_000009.1:p.Gly80Ala | |
| NM_001033859.2:c.173G>C | NP_001029031.1:p.Gly58Ala | |
| NM_001270447.1:c.308G>C | NP_001257376.1:p.Gly103Ala | |
| NM_001270448.1:c.11G>C | NP_001257377.1:p.Gly4Ala | |
| XM_006721516.2:c.239G>C | XP_006721579.2:p.Gly80Ala | |
| XM_011523829.1:c.239G>C | XP_011522131.1:p.Gly80Ala | |
| XM_011523830.1:c.239G>C | XP_011522132.1:p.Gly80Ala | |
| XR_934021.1:n.346G>C | ||
| XR_934022.1:n.346G>C | ||
| XR_934023.1:n.346G>C | ||
| XM_006721516.3:c.239G>C | XP_006721579.2:p.Gly80Ala | |
| XM_011523829.2:c.239G>C | XP_011522131.1:p.Gly80Ala | |
| XM_011523830.2:c.239G>C | XP_011522132.1:p.Gly80Ala | |
| XM_024450741.1:c.239G>C | XP_024306509.1:p.Gly80Ala | |
| XR_934021.2:n.298G>C | ||
| XR_934022.2:n.298G>C | ||
| XR_934023.2:n.298G>C | ||
| NM_000018.4:c.239G>C MANE Select | NP_000009.1:p.Gly80Ala | |
| NM_001033859.3:c.173G>C | NP_001029031.1:p.Gly58Ala | |
| NM_001270447.2:c.308G>C | NP_001257376.1:p.Gly103Ala | |
| NM_001270448.2:c.11G>C | NP_001257377.1:p.Gly4Ala |