Linked Data
ClinVar Variation Id:
383052
dbSNP Id:
rs144255994
ExAC:
17:7125311 C / T
gnomAD v2:
17-7125311-C-T
gnomAD v3:
17-7221992-C-T
gnomAD v4:
17-7221992-C-T
PubMed:
PMID:25363768
ERepo:
CA8337806/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221992C>T , CM000679.2:g.7221992C>T | GRCh38 |
| NC_000017.10:g.7125311C>T , CM000679.1:g.7125311C>T | GRCh37 |
| NC_000017.9:g.7066035C>T | NCBI36 |
| NG_007975.1:g.7159C>T | |
| NG_008391.2:g.3059G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.663C>T MANE Select | ENSP00000349297.5:p.Ser221= | |
| ENST00000322910.9:c.*618C>T | ENSP00000325395.5:n.*618C>T | |
| ENST00000350303.9:c.597C>T | ENSP00000344152.5:p.Ser199= | |
| ENST00000356839.9:c.663C>T | ENSP00000349297.5:p.Ser221= | |
| ENST00000543245.6:c.732C>T | ENSP00000438689.2:p.Ser244= | |
| ENST00000577191.5:n.740C>T | ||
| ENST00000577857.5:n.479C>T | ||
| ENST00000579286.5:n.844C>T | ||
| ENST00000580365.1:n.394C>T | ||
| ENST00000581378.5:c.381C>T | ||
| ENST00000581562.5:n.565C>T | ||
| ENST00000582379.1:n.47C>T | ||
| ENST00000583760.1:n.445C>T | ||
| NM_000018.3:c.663C>T | NP_000009.1:p.Ser221= | |
| NM_001033859.2:c.597C>T | NP_001029031.1:p.Ser199= | |
| NM_001270447.1:c.732C>T | NP_001257376.1:p.Ser244= | |
| NM_001270448.1:c.435C>T | NP_001257377.1:p.Ser145= | |
| XM_006721516.2:c.663C>T | XP_006721579.2:p.Ser221= | |
| XM_011523829.1:c.663C>T | XP_011522131.1:p.Ser221= | |
| XM_011523830.1:c.663C>T | XP_011522132.1:p.Ser221= | |
| XR_934021.1:n.770C>T | ||
| XR_934022.1:n.770C>T | ||
| XR_934023.1:n.770C>T | ||
| XM_006721516.3:c.663C>T | XP_006721579.2:p.Ser221= | |
| XM_011523829.2:c.663C>T | XP_011522131.1:p.Ser221= | |
| XM_011523830.2:c.663C>T | XP_011522132.1:p.Ser221= | |
| XM_024450741.1:c.663C>T | XP_024306509.1:p.Ser221= | |
| XR_934021.2:n.722C>T | ||
| XR_934022.2:n.722C>T | ||
| XR_934023.2:n.722C>T | ||
| NM_000018.4:c.663C>T MANE Select | NP_000009.1:p.Ser221= | |
| NM_001033859.3:c.597C>T | NP_001029031.1:p.Ser199= | |
| NM_001270447.2:c.732C>T | NP_001257376.1:p.Ser244= | |
| NM_001270448.2:c.435C>T | NP_001257377.1:p.Ser145= |