Linked Data
dbSNP Id:
rs1597537310
gnomAD v4:
17-7224384-T-C
MyVariant Identifiers:
chr17:g.7127703T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224384T>C , CM000679.2:g.7224384T>C | GRCh38 |
| NC_000017.10:g.7127703T>C , CM000679.1:g.7127703T>C | GRCh37 |
| NC_000017.9:g.7068427T>C | NCBI36 |
| NG_007975.1:g.9551T>C | |
| NG_008391.2:g.667A>G | |
| NG_033038.1:g.15161A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1596T>C MANE Select | ENSP00000349297.5:p.Ser532= | |
| ENST00000322910.9:c.*1551T>C | ENSP00000325395.5:n.*1551T>C | |
| ENST00000350303.9:c.1530T>C | ENSP00000344152.5:p.Ser510= | |
| ENST00000356839.9:c.1596T>C | ENSP00000349297.5:p.Ser532= | |
| ENST00000542255.6:c.454T>C | ||
| ENST00000543245.6:c.1665T>C | ENSP00000438689.2:p.Ser555= | |
| ENST00000578319.5:n.91T>C | ||
| ENST00000578711.1:n.880T>C | ||
| ENST00000578809.5:n.168T>C | ||
| ENST00000579391.1:n.204T>C | ||
| ENST00000579425.5:n.712T>C | ||
| ENST00000579546.1:c.335T>C | ||
| ENST00000579894.5:n.383T>C | ||
| ENST00000582450.1:n.104T>C | ||
| ENST00000583074.5:n.217T>C | ||
| ENST00000583850.5:n.371T>C | ||
| ENST00000583858.5:c.527T>C | ||
| ENST00000585203.6:n.787T>C | ||
| NM_000018.3:c.1596T>C | NP_000009.1:p.Ser532= | |
| NM_001033859.2:c.1530T>C | NP_001029031.1:p.Ser510= | |
| NM_001270447.1:c.1665T>C | NP_001257376.1:p.Ser555= | |
| NM_001270448.1:c.1368T>C | NP_001257377.1:p.Ser456= | |
| XM_006721516.2:c.1596T>C | XP_006721579.2:p.Ser532= | |
| XM_011523829.1:c.1498T>C | XP_011522131.1:p.Trp500Arg | |
| XM_011523830.1:c.1498T>C | XP_011522132.1:p.Trp500Arg | |
| XR_934021.1:n.1703T>C | ||
| XR_934022.1:n.1605T>C | ||
| XR_934023.1:n.1605T>C | ||
| XM_006721516.3:c.1596T>C | XP_006721579.2:p.Ser532= | |
| XM_011523829.2:c.1498T>C | XP_011522131.1:p.Trp500Arg | |
| XM_011523830.2:c.1498T>C | XP_011522132.1:p.Trp500Arg | |
| XM_024450741.1:c.1498T>C | XP_024306509.1:p.Trp500Arg | |
| XR_934021.2:n.1655T>C | ||
| XR_934022.2:n.1557T>C | ||
| XR_934023.2:n.1557T>C | ||
| NM_000018.4:c.1596T>C MANE Select | NP_000009.1:p.Ser532= | |
| NM_001033859.3:c.1530T>C | NP_001029031.1:p.Ser510= | |
| NM_001270447.2:c.1665T>C | NP_001257376.1:p.Ser555= | |
| NM_001270448.2:c.1368T>C | NP_001257377.1:p.Ser456= |