Linked Data
ClinVar Variation Id:
2700084
ClinVar RCV Id:
RCV003498217
gnomAD v4:
17-7224360-T-C
COSMIC:
COSM3989289
MyVariant Identifiers:
chr17:g.7127679T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224360T>C , CM000679.2:g.7224360T>C | GRCh38 |
| NC_000017.10:g.7127679T>C , CM000679.1:g.7127679T>C | GRCh37 |
| NC_000017.9:g.7068403T>C | NCBI36 |
| NG_007975.1:g.9527T>C | |
| NG_008391.2:g.691A>G | |
| NG_033038.1:g.15185A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1572T>C MANE Select | ENSP00000349297.5:p.Leu524= | |
| ENST00000322910.9:c.*1527T>C | ENSP00000325395.5:n.*1527T>C | |
| ENST00000350303.9:c.1506T>C | ENSP00000344152.5:p.Leu502= | |
| ENST00000356839.9:c.1572T>C | ENSP00000349297.5:p.Leu524= | |
| ENST00000542255.6:c.430T>C | ||
| ENST00000543245.6:c.1641T>C | ENSP00000438689.2:p.Leu547= | |
| ENST00000578319.5:n.67T>C | ||
| ENST00000578711.1:n.856T>C | ||
| ENST00000578809.5:n.144T>C | ||
| ENST00000579391.1:n.180T>C | ||
| ENST00000579425.5:n.688T>C | ||
| ENST00000579546.1:c.311T>C | ||
| ENST00000579894.5:n.359T>C | ||
| ENST00000582450.1:n.80T>C | ||
| ENST00000583074.5:n.193T>C | ||
| ENST00000583850.5:n.347T>C | ||
| ENST00000583858.5:c.503T>C | ||
| ENST00000585203.6:n.763T>C | ||
| NM_000018.3:c.1572T>C | NP_000009.1:p.Leu524= | |
| NM_001033859.2:c.1506T>C | NP_001029031.1:p.Leu502= | |
| NM_001270447.1:c.1641T>C | NP_001257376.1:p.Leu547= | |
| NM_001270448.1:c.1344T>C | NP_001257377.1:p.Leu448= | |
| XM_006721516.2:c.1572T>C | XP_006721579.2:p.Leu524= | |
| XM_011523829.1:c.1474T>C | XP_011522131.1:p.Cys492Arg | |
| XM_011523830.1:c.1474T>C | XP_011522132.1:p.Cys492Arg | |
| XR_934021.1:n.1679T>C | ||
| XR_934022.1:n.1581T>C | ||
| XR_934023.1:n.1581T>C | ||
| XM_006721516.3:c.1572T>C | XP_006721579.2:p.Leu524= | |
| XM_011523829.2:c.1474T>C | XP_011522131.1:p.Cys492Arg | |
| XM_011523830.2:c.1474T>C | XP_011522132.1:p.Cys492Arg | |
| XM_024450741.1:c.1474T>C | XP_024306509.1:p.Cys492Arg | |
| XR_934021.2:n.1631T>C | ||
| XR_934022.2:n.1533T>C | ||
| XR_934023.2:n.1533T>C | ||
| NM_000018.4:c.1572T>C MANE Select | NP_000009.1:p.Leu524= | |
| NM_001033859.3:c.1506T>C | NP_001029031.1:p.Leu502= | |
| NM_001270447.2:c.1641T>C | NP_001257376.1:p.Leu547= | |
| NM_001270448.2:c.1344T>C | NP_001257377.1:p.Leu448= |