Linked Data
ClinVar Variation Id:
703477
dbSNP Id:
rs568118142
ExAC:
17:7126070 C / T
gnomAD v2:
17-7126070-C-T
gnomAD v3:
17-7222751-C-T
gnomAD v4:
17-7222751-C-T
ERepo:
CA8337916/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222751C>T , CM000679.2:g.7222751C>T | GRCh38 |
| NC_000017.10:g.7126070C>T , CM000679.1:g.7126070C>T | GRCh37 |
| NC_000017.9:g.7066794C>T | NCBI36 |
| NG_007975.1:g.7918C>T | |
| NG_008391.2:g.2300G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.963C>T MANE Select | ENSP00000349297.5:p.Asn321= | |
| ENST00000322910.9:c.*918C>T | ENSP00000325395.5:n.*918C>T | |
| ENST00000350303.9:c.897C>T | ENSP00000344152.5:p.Asn299= | |
| ENST00000356839.9:c.963C>T | ENSP00000349297.5:p.Asn321= | |
| ENST00000543245.6:c.1032C>T | ENSP00000438689.2:p.Asn344= | |
| ENST00000578824.5:n.112C>T | ||
| ENST00000581378.5:c.681C>T | ||
| ENST00000582379.1:n.347C>T | ||
| NM_000018.3:c.963C>T | NP_000009.1:p.Asn321= | |
| NM_001033859.2:c.897C>T | NP_001029031.1:p.Asn299= | |
| NM_001270447.1:c.1032C>T | NP_001257376.1:p.Asn344= | |
| NM_001270448.1:c.735C>T | NP_001257377.1:p.Asn245= | |
| XM_006721516.2:c.963C>T | XP_006721579.2:p.Asn321= | |
| XM_011523829.1:c.963C>T | XP_011522131.1:p.Asn321= | |
| XM_011523830.1:c.963C>T | XP_011522132.1:p.Asn321= | |
| XR_934021.1:n.1070C>T | ||
| XR_934022.1:n.1070C>T | ||
| XR_934023.1:n.1070C>T | ||
| XM_006721516.3:c.963C>T | XP_006721579.2:p.Asn321= | |
| XM_011523829.2:c.963C>T | XP_011522131.1:p.Asn321= | |
| XM_011523830.2:c.963C>T | XP_011522132.1:p.Asn321= | |
| XM_024450741.1:c.963C>T | XP_024306509.1:p.Asn321= | |
| XR_934021.2:n.1022C>T | ||
| XR_934022.2:n.1022C>T | ||
| XR_934023.2:n.1022C>T | ||
| NM_000018.4:c.963C>T MANE Select | NP_000009.1:p.Asn321= | |
| NM_001033859.3:c.897C>T | NP_001029031.1:p.Asn299= | |
| NM_001270447.2:c.1032C>T | NP_001257376.1:p.Asn344= | |
| NM_001270448.2:c.735C>T | NP_001257377.1:p.Asn245= |