Linked Data
dbSNP Id:
rs772316982
ExAC:
17:7127686 C / T
gnomAD v2:
17-7127686-C-T
gnomAD v3:
17-7224367-C-T
gnomAD v4:
17-7224367-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224367C>T , CM000679.2:g.7224367C>T | GRCh38 |
| NC_000017.10:g.7127686C>T , CM000679.1:g.7127686C>T | GRCh37 |
| NC_000017.9:g.7068410C>T | NCBI36 |
| NG_007975.1:g.9534C>T | |
| NG_008391.2:g.684G>A | |
| NG_033038.1:g.15178G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1579C>T MANE Select | ENSP00000349297.5:p.Pro527Ser | |
| ENST00000322910.9:c.*1534C>T | ENSP00000325395.5:n.*1534C>T | |
| ENST00000350303.9:c.1513C>T | ENSP00000344152.5:p.Pro505Ser | |
| ENST00000356839.9:c.1579C>T | ENSP00000349297.5:p.Pro527Ser | |
| ENST00000542255.6:c.437C>T | ||
| ENST00000543245.6:c.1648C>T | ENSP00000438689.2:p.Pro550Ser | |
| ENST00000578319.5:n.74C>T | ||
| ENST00000578711.1:n.863C>T | ||
| ENST00000578809.5:n.151C>T | ||
| ENST00000579391.1:n.187C>T | ||
| ENST00000579425.5:n.695C>T | ||
| ENST00000579546.1:c.318C>T | ||
| ENST00000579894.5:n.366C>T | ||
| ENST00000582450.1:n.87C>T | ||
| ENST00000583074.5:n.200C>T | ||
| ENST00000583850.5:n.354C>T | ||
| ENST00000583858.5:c.510C>T | ||
| ENST00000585203.6:n.770C>T | ||
| NM_000018.3:c.1579C>T | NP_000009.1:p.Pro527Ser | |
| NM_001033859.2:c.1513C>T | NP_001029031.1:p.Pro505Ser | |
| NM_001270447.1:c.1648C>T | NP_001257376.1:p.Pro550Ser | |
| NM_001270448.1:c.1351C>T | NP_001257377.1:p.Pro451Ser | |
| XM_006721516.2:c.1579C>T | XP_006721579.2:p.Pro527Ser | |
| XM_011523829.1:c.1481C>T | XP_011522131.1:p.Pro494Leu | |
| XM_011523830.1:c.1481C>T | XP_011522132.1:p.Pro494Leu | |
| XR_934021.1:n.1686C>T | ||
| XR_934022.1:n.1588C>T | ||
| XR_934023.1:n.1588C>T | ||
| XM_006721516.3:c.1579C>T | XP_006721579.2:p.Pro527Ser | |
| XM_011523829.2:c.1481C>T | XP_011522131.1:p.Pro494Leu | |
| XM_011523830.2:c.1481C>T | XP_011522132.1:p.Pro494Leu | |
| XM_024450741.1:c.1481C>T | XP_024306509.1:p.Pro494Leu | |
| XR_934021.2:n.1638C>T | ||
| XR_934022.2:n.1540C>T | ||
| XR_934023.2:n.1540C>T | ||
| NM_000018.4:c.1579C>T MANE Select | NP_000009.1:p.Pro527Ser | |
| NM_001033859.3:c.1513C>T | NP_001029031.1:p.Pro505Ser | |
| NM_001270447.2:c.1648C>T | NP_001257376.1:p.Pro550Ser | |
| NM_001270448.2:c.1351C>T | NP_001257377.1:p.Pro451Ser |