Linked Data
ClinVar Variation Id:
754259
ClinVar RCV Id:
RCV001496747
dbSNP Id:
rs1281251073
MyVariant Identifiers:
chr17:g.7127364G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224045G>C , CM000679.2:g.7224045G>C | GRCh38 |
| NC_000017.10:g.7127364G>C , CM000679.1:g.7127364G>C | GRCh37 |
| NC_000017.9:g.7068088G>C | NCBI36 |
| NG_007975.1:g.9212G>C | |
| NG_008391.2:g.1006C>G | |
| NG_033038.1:g.15500C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1410G>C MANE Select | ENSP00000349297.5:p.Leu470= | |
| ENST00000322910.9:c.*1365G>C | ENSP00000325395.5:n.*1365G>C | |
| ENST00000350303.9:c.1344G>C | ENSP00000344152.5:p.Leu448= | |
| ENST00000356839.9:c.1410G>C | ENSP00000349297.5:p.Leu470= | |
| ENST00000542255.6:c.268G>C | ||
| ENST00000543245.6:c.1479G>C | ENSP00000438689.2:p.Leu493= | |
| ENST00000578711.1:n.541G>C | ||
| ENST00000579425.5:n.526G>C | ||
| ENST00000579546.1:c.247G>C | ||
| ENST00000579894.5:n.121G>C | ||
| ENST00000583074.5:n.129G>C | ||
| ENST00000583850.5:n.185G>C | ||
| ENST00000583858.5:c.439G>C | ||
| ENST00000585203.6:n.601G>C | ||
| NM_000018.3:c.1410G>C | NP_000009.1:p.Leu470= | |
| NM_001033859.2:c.1344G>C | NP_001029031.1:p.Leu448= | |
| NM_001270447.1:c.1479G>C | NP_001257376.1:p.Leu493= | |
| NM_001270448.1:c.1182G>C | NP_001257377.1:p.Leu394= | |
| XM_006721516.2:c.1410G>C | XP_006721579.2:p.Leu470= | |
| XM_011523829.1:c.1410G>C | XP_011522131.1:p.Leu470= | |
| XM_011523830.1:c.1410G>C | XP_011522132.1:p.Leu470= | |
| XR_934021.1:n.1517G>C | ||
| XR_934022.1:n.1517G>C | ||
| XR_934023.1:n.1517G>C | ||
| XM_006721516.3:c.1410G>C | XP_006721579.2:p.Leu470= | |
| XM_011523829.2:c.1410G>C | XP_011522131.1:p.Leu470= | |
| XM_011523830.2:c.1410G>C | XP_011522132.1:p.Leu470= | |
| XM_024450741.1:c.1410G>C | XP_024306509.1:p.Leu470= | |
| XR_934021.2:n.1469G>C | ||
| XR_934022.2:n.1469G>C | ||
| XR_934023.2:n.1469G>C | ||
| NM_000018.4:c.1410G>C MANE Select | NP_000009.1:p.Leu470= | |
| NM_001033859.3:c.1344G>C | NP_001029031.1:p.Leu448= | |
| NM_001270447.2:c.1479G>C | NP_001257376.1:p.Leu493= | |
| NM_001270448.2:c.1182G>C | NP_001257377.1:p.Leu394= |