Linked Data
dbSNP Id:
rs762414940
ExAC:
17:7127697 T / C
gnomAD v2:
17-7127697-T-C
gnomAD v4:
17-7224378-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224378T>C , CM000679.2:g.7224378T>C | GRCh38 |
| NC_000017.10:g.7127697T>C , CM000679.1:g.7127697T>C | GRCh37 |
| NC_000017.9:g.7068421T>C | NCBI36 |
| NG_007975.1:g.9545T>C | |
| NG_008391.2:g.673A>G | |
| NG_033038.1:g.15167A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1590T>C MANE Select | ENSP00000349297.5:p.Ser530= | |
| ENST00000322910.9:c.*1545T>C | ENSP00000325395.5:n.*1545T>C | |
| ENST00000350303.9:c.1524T>C | ENSP00000344152.5:p.Ser508= | |
| ENST00000356839.9:c.1590T>C | ENSP00000349297.5:p.Ser530= | |
| ENST00000542255.6:c.448T>C | ||
| ENST00000543245.6:c.1659T>C | ENSP00000438689.2:p.Ser553= | |
| ENST00000578319.5:n.85T>C | ||
| ENST00000578711.1:n.874T>C | ||
| ENST00000578809.5:n.162T>C | ||
| ENST00000579391.1:n.198T>C | ||
| ENST00000579425.5:n.706T>C | ||
| ENST00000579546.1:c.329T>C | ||
| ENST00000579894.5:n.377T>C | ||
| ENST00000582450.1:n.98T>C | ||
| ENST00000583074.5:n.211T>C | ||
| ENST00000583850.5:n.365T>C | ||
| ENST00000583858.5:c.521T>C | ||
| ENST00000585203.6:n.781T>C | ||
| NM_000018.3:c.1590T>C | NP_000009.1:p.Ser530= | |
| NM_001033859.2:c.1524T>C | NP_001029031.1:p.Ser508= | |
| NM_001270447.1:c.1659T>C | NP_001257376.1:p.Ser553= | |
| NM_001270448.1:c.1362T>C | NP_001257377.1:p.Ser454= | |
| XM_006721516.2:c.1590T>C | XP_006721579.2:p.Ser530= | |
| XM_011523829.1:c.1492T>C | XP_011522131.1:p.Ser498Pro | |
| XM_011523830.1:c.1492T>C | XP_011522132.1:p.Ser498Pro | |
| XR_934021.1:n.1697T>C | ||
| XR_934022.1:n.1599T>C | ||
| XR_934023.1:n.1599T>C | ||
| XM_006721516.3:c.1590T>C | XP_006721579.2:p.Ser530= | |
| XM_011523829.2:c.1492T>C | XP_011522131.1:p.Ser498Pro | |
| XM_011523830.2:c.1492T>C | XP_011522132.1:p.Ser498Pro | |
| XM_024450741.1:c.1492T>C | XP_024306509.1:p.Ser498Pro | |
| XR_934021.2:n.1649T>C | ||
| XR_934022.2:n.1551T>C | ||
| XR_934023.2:n.1551T>C | ||
| NM_000018.4:c.1590T>C MANE Select | NP_000009.1:p.Ser530= | |
| NM_001033859.3:c.1524T>C | NP_001029031.1:p.Ser508= | |
| NM_001270447.2:c.1659T>C | NP_001257376.1:p.Ser553= | |
| NM_001270448.2:c.1362T>C | NP_001257377.1:p.Ser454= |