Linked Data
ClinVar Variation Id:
1550948
ClinVar RCV Id:
RCV002177809
dbSNP Id:
rs926496616
gnomAD v2:
17-7127658-C-T
gnomAD v3:
17-7224339-C-T
gnomAD v4:
17-7224339-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224339C>T , CM000679.2:g.7224339C>T | GRCh38 |
| NC_000017.10:g.7127658C>T , CM000679.1:g.7127658C>T | GRCh37 |
| NC_000017.9:g.7068382C>T | NCBI36 |
| NG_007975.1:g.9506C>T | |
| NG_008391.2:g.712G>A | |
| NG_033038.1:g.15206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1551C>T MANE Select | ENSP00000349297.5:p.Ser517= | |
| ENST00000322910.9:c.*1506C>T | ENSP00000325395.5:n.*1506C>T | |
| ENST00000350303.9:c.1485C>T | ENSP00000344152.5:p.Ser495= | |
| ENST00000356839.9:c.1551C>T | ENSP00000349297.5:p.Ser517= | |
| ENST00000542255.6:c.409C>T | ||
| ENST00000543245.6:c.1620C>T | ENSP00000438689.2:p.Ser540= | |
| ENST00000578319.5:n.46C>T | ||
| ENST00000578711.1:n.835C>T | ||
| ENST00000578809.5:n.123C>T | ||
| ENST00000579391.1:n.159C>T | ||
| ENST00000579425.5:n.667C>T | ||
| ENST00000579546.1:c.290C>T | ||
| ENST00000579894.5:n.338C>T | ||
| ENST00000582450.1:n.59C>T | ||
| ENST00000583074.5:n.172C>T | ||
| ENST00000583850.5:n.326C>T | ||
| ENST00000583858.5:c.482C>T | ||
| ENST00000585203.6:n.742C>T | ||
| NM_000018.3:c.1551C>T | NP_000009.1:p.Ser517= | |
| NM_001033859.2:c.1485C>T | NP_001029031.1:p.Ser495= | |
| NM_001270447.1:c.1620C>T | NP_001257376.1:p.Ser540= | |
| NM_001270448.1:c.1323C>T | NP_001257377.1:p.Ser441= | |
| XM_006721516.2:c.1551C>T | XP_006721579.2:p.Ser517= | |
| XM_011523829.1:c.1453C>T | XP_011522131.1:p.Arg485Trp | |
| XM_011523830.1:c.1453C>T | XP_011522132.1:p.Arg485Trp | |
| XR_934021.1:n.1658C>T | ||
| XR_934022.1:n.1560C>T | ||
| XR_934023.1:n.1560C>T | ||
| XM_006721516.3:c.1551C>T | XP_006721579.2:p.Ser517= | |
| XM_011523829.2:c.1453C>T | XP_011522131.1:p.Arg485Trp | |
| XM_011523830.2:c.1453C>T | XP_011522132.1:p.Arg485Trp | |
| XM_024450741.1:c.1453C>T | XP_024306509.1:p.Arg485Trp | |
| XR_934021.2:n.1610C>T | ||
| XR_934022.2:n.1512C>T | ||
| XR_934023.2:n.1512C>T | ||
| NM_000018.4:c.1551C>T MANE Select | NP_000009.1:p.Ser517= | |
| NM_001033859.3:c.1485C>T | NP_001029031.1:p.Ser495= | |
| NM_001270447.2:c.1620C>T | NP_001257376.1:p.Ser540= | |
| NM_001270448.2:c.1323C>T | NP_001257377.1:p.Ser441= |