Linked Data
ClinVar Variation Id:
2805800
ClinVar RCV Id:
RCV003755349
dbSNP Id:
rs760021614
ExAC:
20:44664108 G / T
gnomAD v2:
20-44664108-G-T
gnomAD v4:
20-46035469-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46035469G>T , CM000682.2:g.46035469G>T | GRCh38 |
| NC_000020.10:g.44664108G>T , CM000682.1:g.44664108G>T | GRCh37 |
| NC_000020.9:g.44097515G>T | NCBI36 |
| NG_046341.1:g.18780G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.213G>T MANE Select | ENSP00000243964.4:p.Leu71= | |
| ENST00000243964.6:c.213G>T | ENSP00000243964.3:p.Leu71= | |
| ENST00000372315.4:n.362G>T | ||
| ENST00000454036.6:c.282G>T | ENSP00000387694.1:p.Leu94= | |
| ENST00000539566.3:c.213G>T | ENSP00000446091.1:p.Leu71= | |
| ENST00000608944.5:c.81G>T | ENSP00000476885.2:p.Leu27= | |
| ENST00000616201.4:c.213G>T | ENSP00000484585.1:p.Leu71= | |
| ENST00000616202.4:c.213G>T | ENSP00000478369.1:p.Leu71= | |
| ENST00000616933.4:c.213G>T | ENSP00000477569.1:p.Leu71= | |
| ENST00000622711.4:n.376G>T | ||
| ENST00000625683.2:n.376G>T | ||
| ENST00000626937.2:c.213G>T | ENSP00000485953.1:p.Leu71= | |
| ENST00000627290.2:c.*66G>T | ENSP00000487449.1:n.*66G>T | |
| ENST00000629054.2:n.737G>T | ||
| NM_001134771.1:c.282G>T | NP_001128243.1:p.Leu94= | |
| NM_020708.4:c.213G>T | NP_065759.1:p.Leu71= | |
| XM_017027981.1:c.282G>T | XP_016883470.1:p.Leu94= | |
| NM_001134771.2:c.282G>T | NP_001128243.1:p.Leu94= | |
| NM_020708.5:c.213G>T MANE Select | NP_065759.1:p.Leu71= |