Linked Data
ClinVar Variation Id:
2990379
ClinVar RCV Id:
RCV003845074
dbSNP Id:
rs1302526331
gnomAD v4:
17-7224463-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224463T>C , CM000679.2:g.7224463T>C | GRCh38 |
| NC_000017.10:g.7127782T>C , CM000679.1:g.7127782T>C | GRCh37 |
| NC_000017.9:g.7068506T>C | NCBI36 |
| NG_007975.1:g.9630T>C | |
| NG_008391.2:g.588A>G | |
| NG_033038.1:g.15082A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1606-17T>C MANE Select | ENSP00000349297.5:n.1606-17T>C | |
| ENST00000322910.9:c.*1561-17T>C | ENSP00000325395.5:n.*1561-17T>C | |
| ENST00000350303.9:c.1540-17T>C | ENSP00000344152.5:n.1540-17T>C | |
| ENST00000356839.9:c.1606-17T>C | ENSP00000349297.5:n.1606-17T>C | |
| ENST00000542255.6:c.464-17T>C | ||
| ENST00000543245.6:c.1675-17T>C | ENSP00000438689.2:n.1675-17T>C | |
| ENST00000578319.5:n.170T>C | ||
| ENST00000578711.1:n.959T>C | ||
| ENST00000578809.5:n.178-17T>C | ||
| ENST00000579391.1:n.214-21T>C | ||
| ENST00000579425.5:n.722-17T>C | ||
| ENST00000579546.1:c.345-21T>C | ||
| ENST00000579894.5:n.393-17T>C | ||
| ENST00000582450.1:n.114-17T>C | ||
| ENST00000583074.5:n.227-17T>C | ||
| ENST00000583850.5:n.381-21T>C | ||
| ENST00000583858.5:c.537-17T>C | ||
| ENST00000585203.6:n.797-17T>C | ||
| NM_000018.3:c.1606-17T>C | NP_000009.1:n.1606-17T>C | |
| NM_001033859.2:c.1540-17T>C | NP_001029031.1:n.1540-17T>C | |
| NM_001270447.1:c.1675-17T>C | NP_001257376.1:n.1675-17T>C | |
| NM_001270448.1:c.1378-17T>C | NP_001257377.1:n.1378-17T>C | |
| XM_006721516.2:c.1606-17T>C | XP_006721579.2:n.1606-17T>C | |
| XM_011523829.1:c.1508-21T>C | XP_011522131.1:n.1508-21T>C | |
| XM_011523830.1:c.1508-21T>C | XP_011522132.1:n.1508-21T>C | |
| XR_934021.1:n.1713-21T>C | ||
| XR_934022.1:n.1615-17T>C | ||
| XR_934023.1:n.1615-17T>C | ||
| XM_006721516.3:c.1606-17T>C | XP_006721579.2:n.1606-17T>C | |
| XM_011523829.2:c.1508-21T>C | XP_011522131.1:n.1508-21T>C | |
| XM_011523830.2:c.1508-21T>C | XP_011522132.1:n.1508-21T>C | |
| XM_024450741.1:c.1577T>C | XP_024306509.1:p.Leu526Pro | |
| XR_934021.2:n.1665-21T>C | ||
| XR_934022.2:n.1567-17T>C | ||
| XR_934023.2:n.1567-17T>C | ||
| NM_000018.4:c.1606-17T>C MANE Select | NP_000009.1:n.1606-17T>C | |
| NM_001033859.3:c.1540-17T>C | NP_001029031.1:n.1540-17T>C | |
| NM_001270447.2:c.1675-17T>C | NP_001257376.1:n.1675-17T>C | |
| NM_001270448.2:c.1378-17T>C | NP_001257377.1:n.1378-17T>C |