Linked Data
ClinVar Variation Id:
1082614
ClinVar RCV Id:
RCV001399002
dbSNP Id:
rs2071355303
gnomAD v4:
17-7224015-C-T
MyVariant Identifiers:
chr17:g.7127334C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224015C>T , CM000679.2:g.7224015C>T | GRCh38 |
| NC_000017.10:g.7127334C>T , CM000679.1:g.7127334C>T | GRCh37 |
| NC_000017.9:g.7068058C>T | NCBI36 |
| NG_007975.1:g.9182C>T | |
| NG_008391.2:g.1036G>A | |
| NG_033038.1:g.15530G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1380C>T MANE Select | ENSP00000349297.5:p.Ile460= | |
| ENST00000322910.9:c.*1335C>T | ENSP00000325395.5:n.*1335C>T | |
| ENST00000350303.9:c.1314C>T | ENSP00000344152.5:p.Ile438= | |
| ENST00000356839.9:c.1380C>T | ENSP00000349297.5:p.Ile460= | |
| ENST00000542255.6:c.238C>T | ||
| ENST00000543245.6:c.1449C>T | ENSP00000438689.2:p.Ile483= | |
| ENST00000578711.1:n.511C>T | ||
| ENST00000579425.5:n.496C>T | ||
| ENST00000579546.1:c.217C>T | ||
| ENST00000579894.5:n.91C>T | ||
| ENST00000583074.5:n.99C>T | ||
| ENST00000583850.5:n.155C>T | ||
| ENST00000583858.5:c.409C>T | ||
| ENST00000585203.6:n.571C>T | ||
| NM_000018.3:c.1380C>T | NP_000009.1:p.Ile460= | |
| NM_001033859.2:c.1314C>T | NP_001029031.1:p.Ile438= | |
| NM_001270447.1:c.1449C>T | NP_001257376.1:p.Ile483= | |
| NM_001270448.1:c.1152C>T | NP_001257377.1:p.Ile384= | |
| XM_006721516.2:c.1380C>T | XP_006721579.2:p.Ile460= | |
| XM_011523829.1:c.1380C>T | XP_011522131.1:p.Ile460= | |
| XM_011523830.1:c.1380C>T | XP_011522132.1:p.Ile460= | |
| XR_934021.1:n.1487C>T | ||
| XR_934022.1:n.1487C>T | ||
| XR_934023.1:n.1487C>T | ||
| XM_006721516.3:c.1380C>T | XP_006721579.2:p.Ile460= | |
| XM_011523829.2:c.1380C>T | XP_011522131.1:p.Ile460= | |
| XM_011523830.2:c.1380C>T | XP_011522132.1:p.Ile460= | |
| XM_024450741.1:c.1380C>T | XP_024306509.1:p.Ile460= | |
| XR_934021.2:n.1439C>T | ||
| XR_934022.2:n.1439C>T | ||
| XR_934023.2:n.1439C>T | ||
| NM_000018.4:c.1380C>T MANE Select | NP_000009.1:p.Ile460= | |
| NM_001033859.3:c.1314C>T | NP_001029031.1:p.Ile438= | |
| NM_001270447.2:c.1449C>T | NP_001257376.1:p.Ile483= | |
| NM_001270448.2:c.1152C>T | NP_001257377.1:p.Ile384= |