Linked Data
ClinVar Variation Id:
324988
ClinVar RCV Id:
RCV002365388
dbSNP Id:
rs76547988
ExAC:
17:7125284 C / T
gnomAD v2:
17-7125284-C-T
gnomAD v3:
17-7221965-C-T
gnomAD v4:
17-7221965-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221965C>T , CM000679.2:g.7221965C>T | GRCh38 |
| NC_000017.10:g.7125284C>T , CM000679.1:g.7125284C>T | GRCh37 |
| NC_000017.9:g.7066008C>T | NCBI36 |
| NG_007975.1:g.7132C>T | |
| NG_008391.2:g.3086G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.636C>T MANE Select | ENSP00000349297.5:p.Ala212= | |
| ENST00000322910.9:c.*591C>T | ENSP00000325395.5:n.*591C>T | |
| ENST00000350303.9:c.570C>T | ENSP00000344152.5:p.Ala190= | |
| ENST00000356839.9:c.636C>T | ENSP00000349297.5:p.Ala212= | |
| ENST00000543245.6:c.705C>T | ENSP00000438689.2:p.Ala235= | |
| ENST00000577191.5:n.713C>T | ||
| ENST00000577857.5:n.452C>T | ||
| ENST00000579286.5:n.817C>T | ||
| ENST00000580365.1:n.367C>T | ||
| ENST00000581378.5:c.354C>T | ||
| ENST00000581562.5:n.538C>T | ||
| ENST00000582379.1:n.20C>T | ||
| ENST00000583312.5:c.651C>T | ENSP00000467920.1:p.Ala217= | |
| ENST00000583760.1:n.418C>T | ||
| NM_000018.3:c.636C>T | NP_000009.1:p.Ala212= | |
| NM_001033859.2:c.570C>T | NP_001029031.1:p.Ala190= | |
| NM_001270447.1:c.705C>T | NP_001257376.1:p.Ala235= | |
| NM_001270448.1:c.408C>T | NP_001257377.1:p.Ala136= | |
| XM_006721516.2:c.636C>T | XP_006721579.2:p.Ala212= | |
| XM_011523829.1:c.636C>T | XP_011522131.1:p.Ala212= | |
| XM_011523830.1:c.636C>T | XP_011522132.1:p.Ala212= | |
| XR_934021.1:n.743C>T | ||
| XR_934022.1:n.743C>T | ||
| XR_934023.1:n.743C>T | ||
| XM_006721516.3:c.636C>T | XP_006721579.2:p.Ala212= | |
| XM_011523829.2:c.636C>T | XP_011522131.1:p.Ala212= | |
| XM_011523830.2:c.636C>T | XP_011522132.1:p.Ala212= | |
| XM_024450741.1:c.636C>T | XP_024306509.1:p.Ala212= | |
| XR_934021.2:n.695C>T | ||
| XR_934022.2:n.695C>T | ||
| XR_934023.2:n.695C>T | ||
| NM_000018.4:c.636C>T MANE Select | NP_000009.1:p.Ala212= | |
| NM_001033859.3:c.570C>T | NP_001029031.1:p.Ala190= | |
| NM_001270447.2:c.705C>T | NP_001257376.1:p.Ala235= | |
| NM_001270448.2:c.408C>T | NP_001257377.1:p.Ala136= |