Linked Data
ClinVar Variation Id:
1153140
ClinVar RCV Id:
RCV001494704
dbSNP Id:
rs1443253379
gnomAD v2:
17-7124257-C-T
gnomAD v4:
17-7220938-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220938C>T , CM000679.2:g.7220938C>T | GRCh38 |
| NC_000017.10:g.7124257C>T , CM000679.1:g.7124257C>T | GRCh37 |
| NC_000017.9:g.7064981C>T | NCBI36 |
| NG_007975.1:g.6105C>T | |
| NG_008391.2:g.4113G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.357C>T MANE Select | ENSP00000349297.5:p.Pro119= | |
| ENST00000322910.9:c.*312C>T | ENSP00000325395.5:n.*312C>T | |
| ENST00000350303.9:c.291C>T | ENSP00000344152.5:p.Pro97= | |
| ENST00000356839.9:c.357C>T | ENSP00000349297.5:p.Pro119= | |
| ENST00000543245.6:c.426C>T | ENSP00000438689.2:p.Pro142= | |
| ENST00000577191.5:n.434C>T | ||
| ENST00000577433.5:n.565C>T | ||
| ENST00000577857.5:n.293+108C>T | ||
| ENST00000579286.5:n.538C>T | ||
| ENST00000579886.2:c.202-7C>T | ENSP00000463246.1:n.202-7C>T | |
| ENST00000580365.1:n.88C>T | ||
| ENST00000581378.5:c.56C>T | ||
| ENST00000581562.5:n.404C>T | ||
| ENST00000582056.5:n.540C>T | ||
| ENST00000582166.1:n.338C>T | ||
| ENST00000583312.5:c.357C>T | ENSP00000467920.1:p.Pro119= | |
| ENST00000584103.5:c.390C>T | ENSP00000465353.1:p.Pro130= | |
| NM_000018.3:c.357C>T | NP_000009.1:p.Pro119= | |
| NM_001033859.2:c.291C>T | NP_001029031.1:p.Pro97= | |
| NM_001270447.1:c.426C>T | NP_001257376.1:p.Pro142= | |
| NM_001270448.1:c.129C>T | NP_001257377.1:p.Pro43= | |
| XM_006721516.2:c.357C>T | XP_006721579.2:p.Pro119= | |
| XM_011523829.1:c.357C>T | XP_011522131.1:p.Pro119= | |
| XM_011523830.1:c.357C>T | XP_011522132.1:p.Pro119= | |
| XR_934021.1:n.464C>T | ||
| XR_934022.1:n.464C>T | ||
| XR_934023.1:n.464C>T | ||
| XM_006721516.3:c.357C>T | XP_006721579.2:p.Pro119= | |
| XM_011523829.2:c.357C>T | XP_011522131.1:p.Pro119= | |
| XM_011523830.2:c.357C>T | XP_011522132.1:p.Pro119= | |
| XM_024450741.1:c.357C>T | XP_024306509.1:p.Pro119= | |
| XR_934021.2:n.416C>T | ||
| XR_934022.2:n.416C>T | ||
| XR_934023.2:n.416C>T | ||
| NM_000018.4:c.357C>T MANE Select | NP_000009.1:p.Pro119= | |
| NM_001033859.3:c.291C>T | NP_001029031.1:p.Pro97= | |
| NM_001270447.2:c.426C>T | NP_001257376.1:p.Pro142= | |
| NM_001270448.2:c.129C>T | NP_001257377.1:p.Pro43= |