Linked Data
dbSNP Id:
rs2030817621
gnomAD v4:
17-63497238-C-T
MyVariant Identifiers:
chr17:g.61574599C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63497238C>T , CM000679.2:g.63497238C>T | GRCh38 |
| NC_000017.10:g.61574599C>T , CM000679.1:g.61574599C>T | GRCh37 |
| NC_000017.9:g.58928331C>T | NCBI36 |
| NG_011648.1:g.25166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3793C>T MANE Select | ENSP00000290866.4:p.Leu1265= | |
| ENST00000290863.10:c.2071C>T | ENSP00000290863.6:p.Leu691= | |
| ENST00000290866.9:c.3793C>T | ENSP00000290866.4:p.Leu1265= | |
| ENST00000413513.7:c.1948C>T | ENSP00000392247.3:p.Leu650= | |
| ENST00000428043.5:c.*215C>T | ENSP00000397593.2:n.*215C>T | |
| ENST00000577647.2:c.1969+253C>T | ENSP00000464149.1:n.1969+253C>T | |
| ENST00000578839.5:c.*1548C>T | ENSP00000462110.2:n.*1548C>T | |
| ENST00000579314.5:c.*1522C>T | ENSP00000462599.1:n.*1522C>T | |
| NM_000789.3:c.3793C>T | NP_000780.1:p.Leu1265= | |
| NM_001178057.1:c.1948C>T | NP_001171528.1:p.Leu650= | |
| NM_152830.2:c.2071C>T | NP_690043.1:p.Leu691= | |
| XM_005257110.1:c.3244C>T | XP_005257167.1:p.Leu1082= | |
| XM_006721737.2:c.2131C>T | XP_006721800.2:p.Leu711= | |
| XM_006721737.3:c.2131C>T | XP_006721800.2:p.Leu711= | |
| NM_000789.4:c.3793C>T MANE Select | NP_000780.1:p.Leu1265= | |
| NM_001178057.2:c.1948C>T | NP_001171528.1:p.Leu650= | |
| NM_152830.3:c.2071C>T | NP_690043.1:p.Leu691= | |
| NM_001382700.1:c.3226C>T | NP_001369629.1:p.Leu1076= | |
| NM_001382701.1:c.2941C>T | NP_001369630.1:p.Leu981= | |
| NM_001382702.1:c.1408C>T | NP_001369631.1:p.Leu470= | |
| NR_168483.1:n.2171C>T |